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Erschienen in: Journal of Endocrinological Investigation 11/2016

01.11.2016 | Review

Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma

verfasst von: A. D. Fisher, J. Ristori, E. Fanni, G. Castellini, G. Forti, M. Maggi

Erschienen in: Journal of Endocrinological Investigation | Ausgabe 11/2016

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Abstract

Introduction

Disorders of Sex Development (DSD) are a wide range of congenital conditions characterized by an incongruence of components involved in sexual differentiation, including gender psychosexual development. The management of such disorders is complex, and one of the most crucial decision is represented by gender assignment. In fact, the primary goal in DSD is to have a gender assignment consistent with the underlying gender identity in order to prevent the distress related to a forthcoming Gender Dysphoria. Historically, gender assignment was based essentially on surgical outcomes, assuming the neutrality of gender identity at birth. This policy has been challenged in the past decade refocusing on the importance of prenatal and postnatal hormonal and genetic influences on psychosexual development.

Aims

(1) to update the main psychological and medical issues that surround DSD, in particular regarding gender identity and gender assignment; (2) to report specific clinical recommendations according to the different diagnosis.

Methods

A systematic search of published evidence was performed using Medline (from 1972 to March 2016). Review of the relevant literature and recommendations was based on authors’ expertise.

Results

A review of gender identity and assignment in DSD is provided as well as clinical recommendations for the management of individuals with DSD.

Conclusions

Given the complexity of this management, DSD individuals and their families need to be supported by a specialized multidisciplinary team, which has been universally recognized as the best practice for intersexual conditions. In case of juvenile GD in DSD, the prescription of gonadotropin-releasing hormone analogues, following the World Professional Association for Transgender Health and the Endocrine Society guidelines, should be considered. It should always be taken into account that every DSD person is unique and has to be treated with individualized care. In this perspective, international registries are crucial to improve the understanding of these challenging conditions and clinical practice, in providing a better prediction of gender identity.
Literatur
1.
Zurück zum Zitat Kim SS, Kolon TF (2009) Hormonal abnormalities leading to disorders of sexual development. Expert Rev Endocrinol Metab 4:161–172CrossRef Kim SS, Kolon TF (2009) Hormonal abnormalities leading to disorders of sexual development. Expert Rev Endocrinol Metab 4:161–172CrossRef
2.
Zurück zum Zitat Hiort O, Birinbaun W, Marshall L, Wunsch L, Werner R, Schroder T, Dohnert U, Hoterhus PM (2014) Management of disorders of sex development. Nat Rev Endocrinol 10:520–529PubMedCrossRef Hiort O, Birinbaun W, Marshall L, Wunsch L, Werner R, Schroder T, Dohnert U, Hoterhus PM (2014) Management of disorders of sex development. Nat Rev Endocrinol 10:520–529PubMedCrossRef
3.
Zurück zum Zitat Jost A (1972) A new look at the mechanism controlling sex differentiation in mammals. Johns Hopkins Med J 130:38–53PubMed Jost A (1972) A new look at the mechanism controlling sex differentiation in mammals. Johns Hopkins Med J 130:38–53PubMed
4.
Zurück zum Zitat Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351:117–121PubMedCrossRef Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R (1991) Male development of chromosomally female mice transgenic for SRY. Nature 351:117–121PubMedCrossRef
5.
Zurück zum Zitat Achermann JC, Hughes IA (2008) Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR (eds) Williams textbook of endocrinology, 11th edn. Elsevier Saunders, Philadelphia Achermann JC, Hughes IA (2008) Disorders of sex development. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR (eds) Williams textbook of endocrinology, 11th edn. Elsevier Saunders, Philadelphia
6.
Zurück zum Zitat Cameron F, Smith C (2004) Embryology of the female genital tract. In: Balen A, Creighton S, Davies MC, MacDougall J, Stanhope R (eds) Paediatric and adolescent gynaecology: a multidisciplinary approach. Cambridge University Press, Cambridge, pp 3–8CrossRef Cameron F, Smith C (2004) Embryology of the female genital tract. In: Balen A, Creighton S, Davies MC, MacDougall J, Stanhope R (eds) Paediatric and adolescent gynaecology: a multidisciplinary approach. Cambridge University Press, Cambridge, pp 3–8CrossRef
7.
Zurück zum Zitat Migeon CJ, Wisniewski AB (2003) Human sex differentiation and its abnormalities. Best Pract Res Clin Obstet Gynaecol 17:1–18PubMedCrossRef Migeon CJ, Wisniewski AB (2003) Human sex differentiation and its abnormalities. Best Pract Res Clin Obstet Gynaecol 17:1–18PubMedCrossRef
8.
Zurück zum Zitat Siiteri PK, Wilson JD (1974) Testosterone formation and metabolism during male sexual differentiation in the human embryo. J Clin Endocrinol Metab 38:113–125PubMedCrossRef Siiteri PK, Wilson JD (1974) Testosterone formation and metabolism during male sexual differentiation in the human embryo. J Clin Endocrinol Metab 38:113–125PubMedCrossRef
9.
Zurück zum Zitat Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244PubMedCrossRef Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244PubMedCrossRef
10.
Zurück zum Zitat Pasterski V (2008) Disorders of sex development and atypical sex differentiation. In: Rowland DL, Incrocci L (eds) Handbook of sexual and gender identity disorders. Wiley, Hoboken, pp 354–374 Pasterski V (2008) Disorders of sex development and atypical sex differentiation. In: Rowland DL, Incrocci L (eds) Handbook of sexual and gender identity disorders. Wiley, Hoboken, pp 354–374
11.
Zurück zum Zitat Money J, Hampson JG, Hampson JL (1955) An examination of some basic sexual concepts: the evidence of human hermaphroditism. Bull Johns Hopkins Hosp 97:301–319PubMed Money J, Hampson JG, Hampson JL (1955) An examination of some basic sexual concepts: the evidence of human hermaphroditism. Bull Johns Hopkins Hosp 97:301–319PubMed
12.
Zurück zum Zitat Gooren L (2010) The endocrinology of sexual behavior and gender identity. In: Jameson L, de Groot LJ (eds) Endocrinology—adult and pediatric, 6th edn. Elsevier Saunders, Philadelphia Gooren L (2010) The endocrinology of sexual behavior and gender identity. In: Jameson L, de Groot LJ (eds) Endocrinology—adult and pediatric, 6th edn. Elsevier Saunders, Philadelphia
13.
Zurück zum Zitat Arnold AP (2009) The organizational–activational hypothesis as the foundation for a unified theory of sexual differentiation of all mammalian tissues. Horm Behav 55:570–578PubMedPubMedCentralCrossRef Arnold AP (2009) The organizational–activational hypothesis as the foundation for a unified theory of sexual differentiation of all mammalian tissues. Horm Behav 55:570–578PubMedPubMedCentralCrossRef
14.
Zurück zum Zitat Bramen JE, Hranilovich JA, Dahl RE, Chen J, Rosso C, Forbes EE, Dinov ID, Worthman CM, Sowell ER (2012) Sex matters during adolescence: testosterone-related cortical thickness maturation differs between boys and girls. PLoS ONE 7:e33850PubMedPubMedCentralCrossRef Bramen JE, Hranilovich JA, Dahl RE, Chen J, Rosso C, Forbes EE, Dinov ID, Worthman CM, Sowell ER (2012) Sex matters during adolescence: testosterone-related cortical thickness maturation differs between boys and girls. PLoS ONE 7:e33850PubMedPubMedCentralCrossRef
15.
Zurück zum Zitat Giedd JN, Blumenthal J, Jeffries NO, Castellanos FX, Liu H, Zijdenbos A, Paus T, Evans AC, Rapoport JL (1999) Brain development during childhood and adolescence: a longitudinal MRI study. Nat Neurosci 2:861–863PubMedCrossRef Giedd JN, Blumenthal J, Jeffries NO, Castellanos FX, Liu H, Zijdenbos A, Paus T, Evans AC, Rapoport JL (1999) Brain development during childhood and adolescence: a longitudinal MRI study. Nat Neurosci 2:861–863PubMedCrossRef
16.
Zurück zum Zitat Lenroot RK, Gogtay N, Greenstein DK, Molloy Wells E, Wallace GL, Clasen LS, Blumenthal JD, Lerch J, Zejdenbos AP, Evans AC, Thomphons PM, Giedd JN (2007) Sexual dimorphism of brain developmental trajectories during childhood and adolescence. Neuroimage 36:1065–1073PubMedPubMedCentralCrossRef Lenroot RK, Gogtay N, Greenstein DK, Molloy Wells E, Wallace GL, Clasen LS, Blumenthal JD, Lerch J, Zejdenbos AP, Evans AC, Thomphons PM, Giedd JN (2007) Sexual dimorphism of brain developmental trajectories during childhood and adolescence. Neuroimage 36:1065–1073PubMedPubMedCentralCrossRef
18.
Zurück zum Zitat Phoenix CH, Goy RW, Gerall AA, Young WC (1959) Organizing action of prenatally administered testosterone propionate on the tissues mediating mating behavior in the female guinea pig. Endocrinology 65:369–382PubMedCrossRef Phoenix CH, Goy RW, Gerall AA, Young WC (1959) Organizing action of prenatally administered testosterone propionate on the tissues mediating mating behavior in the female guinea pig. Endocrinology 65:369–382PubMedCrossRef
19.
Zurück zum Zitat Meyer-Bahlburg HFL, Baratz Dalke K, Berenbaum SA, Cohen-Kettenis PT, Hines M, Schober JM (2016) Gender assignment, reassignment and outcome in disorders of sex development: update of the 2005 consensus conference. Horm Res Paediatr 85:112–118PubMedCrossRef Meyer-Bahlburg HFL, Baratz Dalke K, Berenbaum SA, Cohen-Kettenis PT, Hines M, Schober JM (2016) Gender assignment, reassignment and outcome in disorders of sex development: update of the 2005 consensus conference. Horm Res Paediatr 85:112–118PubMedCrossRef
20.
Zurück zum Zitat Quigley CA (2002) Editorial: the postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome. J Clin Endocrinol Metab 87:8–24 Quigley CA (2002) Editorial: the postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome. J Clin Endocrinol Metab 87:8–24
21.
Zurück zum Zitat Swaab DF (2007) Sexual differentiation of the brain and behavior. Best Pract Res Clin Endocrinol Metab 21:431–444PubMedCrossRef Swaab DF (2007) Sexual differentiation of the brain and behavior. Best Pract Res Clin Endocrinol Metab 21:431–444PubMedCrossRef
22.
Zurück zum Zitat Swaab DF (2004) The human hypothalamus. Basic and clinical aspects. Part II: neuropathology of the hypothalamus and adjacent brain structures. In: Aminoff MJ, Boller F, Swaab DF (eds) Handbook of clinical neurology. Elsevier, Amsterdam Swaab DF (2004) The human hypothalamus. Basic and clinical aspects. Part II: neuropathology of the hypothalamus and adjacent brain structures. In: Aminoff MJ, Boller F, Swaab DF (eds) Handbook of clinical neurology. Elsevier, Amsterdam
23.
Zurück zum Zitat Cohen-Brendahan CC, Van de Beek C, Berendbaum SA (2005) Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings. Neurosci Biobehav Rev 29:353–384CrossRef Cohen-Brendahan CC, Van de Beek C, Berendbaum SA (2005) Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings. Neurosci Biobehav Rev 29:353–384CrossRef
24.
Zurück zum Zitat Jürgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U, Köhler B, DSD Network Working Group (2012) Psychosexual development in adolescents and adults with disorders of sex development: results from the German Clinical Evaluation Study. J Sex Med 10:2703–2714PubMedCrossRef Jürgensen M, Kleinemeier E, Lux A, Steensma TD, Cohen-Kettenis PT, Hiort O, Thyen U, Köhler B, DSD Network Working Group (2012) Psychosexual development in adolescents and adults with disorders of sex development: results from the German Clinical Evaluation Study. J Sex Med 10:2703–2714PubMedCrossRef
25.
Zurück zum Zitat Meyer-Bahlburg HF (2013) Sex steroids and variants of gender identity. Endocrinol Metab Clin North Am 42:435–452PubMedCrossRef Meyer-Bahlburg HF (2013) Sex steroids and variants of gender identity. Endocrinol Metab Clin North Am 42:435–452PubMedCrossRef
26.
Zurück zum Zitat Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI (2004) Prenatal androgenization affects gender-related behavior but not gender identity in 5–12 years old girls with congenital adrenal hyperplasia. Arch Sex Behav 33:97–104PubMedCrossRef Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI (2004) Prenatal androgenization affects gender-related behavior but not gender identity in 5–12 years old girls with congenital adrenal hyperplasia. Arch Sex Behav 33:97–104PubMedCrossRef
27.
Zurück zum Zitat Money J (1994) The concept of gender identity disorder in childhood and adolescence after 39 years. J Sex Marital Ther 20:163–177PubMedCrossRef Money J (1994) The concept of gender identity disorder in childhood and adolescence after 39 years. J Sex Marital Ther 20:163–177PubMedCrossRef
28.
Zurück zum Zitat Zucker KJ (2002) Intersexuality and gender identity differentiation. J Pediatr Adolesc Gynecol 15:3–13PubMedCrossRef Zucker KJ (2002) Intersexuality and gender identity differentiation. J Pediatr Adolesc Gynecol 15:3–13PubMedCrossRef
29.
Zurück zum Zitat Byne W (2006) Developmental endocrine influences on gender identity: implications for management of disorders of sex development. Mt Sinai J Med 73:950–959PubMed Byne W (2006) Developmental endocrine influences on gender identity: implications for management of disorders of sex development. Mt Sinai J Med 73:950–959PubMed
30.
Zurück zum Zitat Gooren L (1990) The endocrinology of transsexualism: a review and commentary. Psychoneuroendocrinology 5:3–14CrossRef Gooren L (1990) The endocrinology of transsexualism: a review and commentary. Psychoneuroendocrinology 5:3–14CrossRef
31.
32.
Zurück zum Zitat Money J (1981) The development of sexuality and eroticism in humankind. Q Rev Biol 56:379–404PubMedCrossRef Money J (1981) The development of sexuality and eroticism in humankind. Q Rev Biol 56:379–404PubMedCrossRef
33.
Zurück zum Zitat Meyer-Bahlburg HF (2010) From mental disorder to iatrogenic hypogonadism: dilemmas in conceptualizing gender identity variants as psychiatric conditions. Arch Sex Behav 39:461–476PubMedPubMedCentralCrossRef Meyer-Bahlburg HF (2010) From mental disorder to iatrogenic hypogonadism: dilemmas in conceptualizing gender identity variants as psychiatric conditions. Arch Sex Behav 39:461–476PubMedPubMedCentralCrossRef
34.
Zurück zum Zitat Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metabol 22:119–134CrossRef Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metabol 22:119–134CrossRef
35.
Zurück zum Zitat Houk CP, Lee PA (2010) Approach to assigning gender in 46, xx congenital adrenal hyperplasia with male external genitalia: replacing dogmatism with pragmatism. J Clin Endocrinol Metab 95:4501–4508PubMedCrossRef Houk CP, Lee PA (2010) Approach to assigning gender in 46, xx congenital adrenal hyperplasia with male external genitalia: replacing dogmatism with pragmatism. J Clin Endocrinol Metab 95:4501–4508PubMedCrossRef
36.
Zurück zum Zitat Bao AM, Swaab DF (2011) Sexual differentiation of the human brain: relation to gender identity, sexual orientation and neuropsychiatric disorders. Front Neuroendocrinol 32:214–226PubMedCrossRef Bao AM, Swaab DF (2011) Sexual differentiation of the human brain: relation to gender identity, sexual orientation and neuropsychiatric disorders. Front Neuroendocrinol 32:214–226PubMedCrossRef
37.
Zurück zum Zitat American Psychiatric Association (2013) DSM-5: diagnostic and statistical manual for mental disorders, 5th edn. American Psychiatric Press, Washington, DCCrossRef American Psychiatric Association (2013) DSM-5: diagnostic and statistical manual for mental disorders, 5th edn. American Psychiatric Press, Washington, DCCrossRef
38.
Zurück zum Zitat Kruijver FP, Zhou JN, Pool CW, Hofman MA, Gooren LJ, Swaab DF (2000) Male-to-female transsexuals have female neuron numbers in a limbic nucleus. J Clin Endocrinol Metab 85:2034–2041PubMedCrossRef Kruijver FP, Zhou JN, Pool CW, Hofman MA, Gooren LJ, Swaab DF (2000) Male-to-female transsexuals have female neuron numbers in a limbic nucleus. J Clin Endocrinol Metab 85:2034–2041PubMedCrossRef
39.
Zurück zum Zitat Zhou JN, Hofman MA, Gooren LJ, Swaab DF (1995) A sex difference in the human brain and its relation to transsexuality. Nature 378:68–70PubMedCrossRef Zhou JN, Hofman MA, Gooren LJ, Swaab DF (1995) A sex difference in the human brain and its relation to transsexuality. Nature 378:68–70PubMedCrossRef
40.
Zurück zum Zitat Smith ES, Junger J, Derntl B, Habel U (2015) The transsexual brain—a review of findings on the neural basis of transsexualism. Neurosci Biobehav Rev 59:251–266PubMedCrossRef Smith ES, Junger J, Derntl B, Habel U (2015) The transsexual brain—a review of findings on the neural basis of transsexualism. Neurosci Biobehav Rev 59:251–266PubMedCrossRef
41.
Zurück zum Zitat Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E (2009) Regional gray matter variation in male-to-female transsexualism. Neuroimage 46:904–907PubMedPubMedCentralCrossRef Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E (2009) Regional gray matter variation in male-to-female transsexualism. Neuroimage 46:904–907PubMedPubMedCentralCrossRef
42.
Zurück zum Zitat Garcia-Falgueras A, Swaab DF (2008) A sex difference in the hypothalamic uncinate nucleus: relationship to gender identity. Brain 131:3132–3146PubMedCrossRef Garcia-Falgueras A, Swaab DF (2008) A sex difference in the hypothalamic uncinate nucleus: relationship to gender identity. Brain 131:3132–3146PubMedCrossRef
43.
Zurück zum Zitat Berglund H, Lindstrom P, Dhejne-Helmy C, Savic I (2008) Male to female transsexuals show sex-atypical hypothalamus activation when smelling odorous steroids. Cerebr Cortex 18:1900–1908CrossRef Berglund H, Lindstrom P, Dhejne-Helmy C, Savic I (2008) Male to female transsexuals show sex-atypical hypothalamus activation when smelling odorous steroids. Cerebr Cortex 18:1900–1908CrossRef
44.
Zurück zum Zitat Gizewski ER, Krause E, Schlamann M, Happich F, Ladd ME, Forsting M, Senf W (2009) Specific cerebral activation due to visual erotic stimuli in male-to-female transsexuals compared with male and female controls: an fMRI study. J Sex Med 6:440–448PubMedCrossRef Gizewski ER, Krause E, Schlamann M, Happich F, Ladd ME, Forsting M, Senf W (2009) Specific cerebral activation due to visual erotic stimuli in male-to-female transsexuals compared with male and female controls: an fMRI study. J Sex Med 6:440–448PubMedCrossRef
45.
Zurück zum Zitat Burke SM, Menks WM, Cohen-Kettenis PT, Klink DT, Bakker J (2014) Click-evoked otoacoustic emissions in children and adolescents with gender identity disorder. Arch Sex Behav 43:1515–1523PubMedCrossRef Burke SM, Menks WM, Cohen-Kettenis PT, Klink DT, Bakker J (2014) Click-evoked otoacoustic emissions in children and adolescents with gender identity disorder. Arch Sex Behav 43:1515–1523PubMedCrossRef
46.
Zurück zum Zitat Ciocca G, Limoncin E, Cellerino A, Fisher AD, Gravina GL, Carosa E, Mollaioli D, Valenzano DR, Mennucci A, Bandini E, Di Stasi SM, Maggi M, Lenzi A, Jannini EA (2014) Gender identity rather than sexual orientation impacts on facial preferences. J Sex Med 11:2500–2507PubMedCrossRef Ciocca G, Limoncin E, Cellerino A, Fisher AD, Gravina GL, Carosa E, Mollaioli D, Valenzano DR, Mennucci A, Bandini E, Di Stasi SM, Maggi M, Lenzi A, Jannini EA (2014) Gender identity rather than sexual orientation impacts on facial preferences. J Sex Med 11:2500–2507PubMedCrossRef
47.
Zurück zum Zitat Hare L, Bernard P, Sànchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR (2009) Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry 65:93–96PubMedCrossRef Hare L, Bernard P, Sànchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR (2009) Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry 65:93–96PubMedCrossRef
48.
Zurück zum Zitat Bentz EK, Hefler LA, Kaufmann U, Huber JC, Kolbus A, Tempfer CB (2008) A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female to male but not male to female transsexualism. Fertil Steril 90:56–59PubMedCrossRef Bentz EK, Hefler LA, Kaufmann U, Huber JC, Kolbus A, Tempfer CB (2008) A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female to male but not male to female transsexualism. Fertil Steril 90:56–59PubMedCrossRef
49.
Zurück zum Zitat Henningsson S, Westberg L, Nilsson S, Lundström B, Ekselius L, Bodlund O, Lindström E, Hellstrand M, Rosmond R, Eriksson E, Landén M (2005) Sex steroid-related genes and male-to-female transsexualism. Psychoneuroendocrinology 30:657–664PubMedCrossRef Henningsson S, Westberg L, Nilsson S, Lundström B, Ekselius L, Bodlund O, Lindström E, Hellstrand M, Rosmond R, Eriksson E, Landén M (2005) Sex steroid-related genes and male-to-female transsexualism. Psychoneuroendocrinology 30:657–664PubMedCrossRef
50.
Zurück zum Zitat Fisher AD (2013) Disorders of sex development. In: Kirana PS, Tripodi F, Reisman Y, Porst H (eds) The EFS and ESSM syllabus of clinical sexology. Medix publishers, Amsterdam Fisher AD (2013) Disorders of sex development. In: Kirana PS, Tripodi F, Reisman Y, Porst H (eds) The EFS and ESSM syllabus of clinical sexology. Medix publishers, Amsterdam
51.
Zurück zum Zitat Fisher AD, Ristori J, Bandini E, Giordano S, Mosconi M, Jannini EA, Greggio NA, Godano A, Manieri C, Meriggiola C, Ricca V, Italian GnRH analogs study ONIG group, Dettore D, Maggi M (2014) Medical treatment in gender dysphoric adolescents endorsed by SIAMS-SIE-SIEDP-ONIG. J Endocrinol Invest 37:675–687PubMedCrossRef Fisher AD, Ristori J, Bandini E, Giordano S, Mosconi M, Jannini EA, Greggio NA, Godano A, Manieri C, Meriggiola C, Ricca V, Italian GnRH analogs study ONIG group, Dettore D, Maggi M (2014) Medical treatment in gender dysphoric adolescents endorsed by SIAMS-SIE-SIEDP-ONIG. J Endocrinol Invest 37:675–687PubMedCrossRef
52.
Zurück zum Zitat Fisk NM (1974) Editorial: gender dysphoria syndrome—the conceptualization that liberalizes indications for total gender reorientation and implies a broadly based multi-dimensional rehabilitative regimen. West J Med 120:386–391PubMedPubMedCentral Fisk NM (1974) Editorial: gender dysphoria syndrome—the conceptualization that liberalizes indications for total gender reorientation and implies a broadly based multi-dimensional rehabilitative regimen. West J Med 120:386–391PubMedPubMedCentral
53.
Zurück zum Zitat Meyer-Bahlburg HF (2005) Introduction: gender dysphoria and gender change in persons with intersexuality. Arch Sex Behav 34:371–373PubMedCrossRef Meyer-Bahlburg HF (2005) Introduction: gender dysphoria and gender change in persons with intersexuality. Arch Sex Behav 34:371–373PubMedCrossRef
54.
Zurück zum Zitat Mayfield W (2001) The development of an internalized homonegativity inventory for gay men. J Homosex 41:53–76PubMedCrossRef Mayfield W (2001) The development of an internalized homonegativity inventory for gay men. J Homosex 41:53–76PubMedCrossRef
55.
Zurück zum Zitat Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group; ESPE Consensus Group (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563PubMedPubMedCentralCrossRef Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group; ESPE Consensus Group (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563PubMedPubMedCentralCrossRef
56.
Zurück zum Zitat Bashamboo A, McElreavey K (2015) Human sex-determination and disorders of sex-development (DSD). Semin Cell Dev Biol 45:77–83PubMedCrossRef Bashamboo A, McElreavey K (2015) Human sex-determination and disorders of sex-development (DSD). Semin Cell Dev Biol 45:77–83PubMedCrossRef
57.
Zurück zum Zitat McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42(2):395–412 (ix–x) PubMedCrossRef McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42(2):395–412 (ix–x) PubMedCrossRef
58.
Zurück zum Zitat El-Khairi R, Achermann JC (2012) Steroidogenic factor-1 and human disease. Semin Reprod Med 30:374–381PubMedCrossRef El-Khairi R, Achermann JC (2012) Steroidogenic factor-1 and human disease. Semin Reprod Med 30:374–381PubMedCrossRef
59.
Zurück zum Zitat Jääskeläinen M, Prunskaite-Hyyryläinen R, Naillat F, Parviainen H, Anttonen M, Heikinheimo M, Liakka A, Ola R, Vainio S, Vaskivuo TE, Tapanainen JS (2010) WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol 317:106–111PubMedCrossRef Jääskeläinen M, Prunskaite-Hyyryläinen R, Naillat F, Parviainen H, Anttonen M, Heikinheimo M, Liakka A, Ola R, Vainio S, Vaskivuo TE, Tapanainen JS (2010) WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. Mol Cell Endocrinol 317:106–111PubMedCrossRef
60.
Zurück zum Zitat Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC (2011) Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. PLoS ONE 6:e16366PubMedPubMedCentralCrossRef Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC (2011) Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. PLoS ONE 6:e16366PubMedPubMedCentralCrossRef
61.
Zurück zum Zitat Yang JH, Baskin LS, Disandro M (2010) Gender identity in disorders of sex development: review article. Urology 75:153–159PubMedCrossRef Yang JH, Baskin LS, Disandro M (2010) Gender identity in disorders of sex development: review article. Urology 75:153–159PubMedCrossRef
62.
Zurück zum Zitat DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328PubMedCrossRef DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328PubMedCrossRef
63.
Zurück zum Zitat Ercan O, Kutlug S, Uysal O, Alikasifoglu M, Inceoglu D (2013) Gender identity and gender role in DSD patients raised as females: a preliminary outcome study. Front Endocrinol (Lausanne) 4:86 Ercan O, Kutlug S, Uysal O, Alikasifoglu M, Inceoglu D (2013) Gender identity and gender role in DSD patients raised as females: a preliminary outcome study. Front Endocrinol (Lausanne) 4:86
64.
Zurück zum Zitat Money J (1975) Ablatio penis: normal male infant sex-reassigned as a girl. Arch Sex Behav 4:65–71PubMedCrossRef Money J (1975) Ablatio penis: normal male infant sex-reassigned as a girl. Arch Sex Behav 4:65–71PubMedCrossRef
65.
Zurück zum Zitat Chase C (1998) Surgical progress is not the answer to intersexuality. J Clinical Ethics 9:385–392 Chase C (1998) Surgical progress is not the answer to intersexuality. J Clinical Ethics 9:385–392
66.
Zurück zum Zitat Bouvattler C, Mignot B, Lefevre H, Morel Y, Bougneres P (2006) Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab 91:3310–3315CrossRef Bouvattler C, Mignot B, Lefevre H, Morel Y, Bougneres P (2006) Impaired sexual activity in male adults with partial androgen insensitivity. J Clin Endocrinol Metab 91:3310–3315CrossRef
67.
Zurück zum Zitat Hooper HT, Figuiredo BC, Pavan-Senn CC, de Lacerca L, Sandrini R, Mengarelli JK, Japp K, Karaviti LP (2004) Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. Clin Genet 65:183–190PubMedCrossRef Hooper HT, Figuiredo BC, Pavan-Senn CC, de Lacerca L, Sandrini R, Mengarelli JK, Japp K, Karaviti LP (2004) Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. Clin Genet 65:183–190PubMedCrossRef
68.
Zurück zum Zitat Jürgensen M, Kleinemeier E, Lux A, Steemsa TD, Cohen-Kettenis PT, Hiort O, Thyen U, DSD Network Working Group (2010) Psychosexual development in children with disorder of sex development—results from the German Clinical Evaluation Study. J Pediatr Endocrinol Metab 23:565–578PubMedCrossRef Jürgensen M, Kleinemeier E, Lux A, Steemsa TD, Cohen-Kettenis PT, Hiort O, Thyen U, DSD Network Working Group (2010) Psychosexual development in children with disorder of sex development—results from the German Clinical Evaluation Study. J Pediatr Endocrinol Metab 23:565–578PubMedCrossRef
69.
Zurück zum Zitat Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, Thyen U (2014) Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 173:893–903PubMedCrossRef Jürgensen M, Lux A, Wien SB, Kleinemeier E, Hiort O, Thyen U (2014) Health-related quality of life in children with disorders of sex development (DSD). Eur J Pediatr 173:893–903PubMedCrossRef
70.
Zurück zum Zitat Mazur T, Sandberg DE, Perrin MA, Gallagher JA, MacGillivray MH (2004) Male pseudohermaphroditism: long-term quality of life outcome in five 46, XY individuals reared female. J Pediatr Endocrinol Metab 17:809–823PubMedCrossRef Mazur T, Sandberg DE, Perrin MA, Gallagher JA, MacGillivray MH (2004) Male pseudohermaphroditism: long-term quality of life outcome in five 46, XY individuals reared female. J Pediatr Endocrinol Metab 17:809–823PubMedCrossRef
71.
Zurück zum Zitat Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HF, Rock JA, Brown TR, Casella SJ, Maret A, Ngai KM, Money J, Berkovitz GD (2002) Ambiguous genitalia with perineo-scrotal hypospadias in 46, XY individuals: long-term medical, surgical and psychosexual outcome. Pediatrics 110:e31PubMedCrossRef Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HF, Rock JA, Brown TR, Casella SJ, Maret A, Ngai KM, Money J, Berkovitz GD (2002) Ambiguous genitalia with perineo-scrotal hypospadias in 46, XY individuals: long-term medical, surgical and psychosexual outcome. Pediatrics 110:e31PubMedCrossRef
72.
Zurück zum Zitat Houk CP, Hughes IA, Ahmed SF, Lee PA (2006) Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics 118:753–757PubMed Houk CP, Hughes IA, Ahmed SF, Lee PA (2006) Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. Pediatrics 118:753–757PubMed
73.
Zurück zum Zitat van der Zwan YG, Callens N, van Kuppenveld J, Kwak K, Drop SL, Kortmann B, Dessens AB, Wolffenbuttel KP, Dutch Study Group on DSD (2013) Long-term outcomes in males with disorders of sex development. J Urol 190:1038–1042PubMedCrossRef van der Zwan YG, Callens N, van Kuppenveld J, Kwak K, Drop SL, Kortmann B, Dessens AB, Wolffenbuttel KP, Dutch Study Group on DSD (2013) Long-term outcomes in males with disorders of sex development. J Urol 190:1038–1042PubMedCrossRef
74.
Zurück zum Zitat Warne G, Grover S, Hutson J, Sinclair A, Metcalfe S, Northam F, Freeman J, Murdoch Childrens Research Institute Sex Study Group (2005) A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 18:555–567PubMedCrossRef Warne G, Grover S, Hutson J, Sinclair A, Metcalfe S, Northam F, Freeman J, Murdoch Childrens Research Institute Sex Study Group (2005) A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab 18:555–567PubMedCrossRef
75.
Zurück zum Zitat Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S, Global DSD update consortium (2016) Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 85:158–180PubMedCrossRef Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S, Global DSD update consortium (2016) Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 85:158–180PubMedCrossRef
76.
Zurück zum Zitat Cheon CK (2011) Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr 170:1–8PubMedCrossRef Cheon CK (2011) Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr 170:1–8PubMedCrossRef
77.
Zurück zum Zitat Cohen-Kettenis PT (2005) Gender change in 46, XY persons with 5alfa-reductase-2 deficiency and 17alpha-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 34:399–410PubMedCrossRef Cohen-Kettenis PT (2005) Gender change in 46, XY persons with 5alfa-reductase-2 deficiency and 17alpha-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 34:399–410PubMedCrossRef
78.
Zurück zum Zitat Nordenström A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Nordenskjöld A (2010) A: sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients’ perception. J Clin Endocrinol Metab 95:3633–3640PubMedCrossRef Nordenström A, Frisén L, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Nordenskjöld A (2010) A: sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients’ perception. J Clin Endocrinol Metab 95:3633–3640PubMedCrossRef
79.
Zurück zum Zitat Mendonca BB, Domenice S, Arnhold IJ, Costa EM (2009) 46, XY disorders of sex development (DSD). Clin Endocrinol 70:173–187 Mendonca BB, Domenice S, Arnhold IJ, Costa EM (2009) 46, XY disorders of sex development (DSD). Clin Endocrinol 70:173–187
81.
Zurück zum Zitat Suresh D, Crawford J, Axelrad ME, Gunn SK, McCullough L, Smith OB, Sutton VR, Roth D, Karaviti LP, Dietrich JE (2013) Assessing sex assignment concordance with genotype and phenotype. Int J Pediatr Endocrinol 2013:7PubMedPubMedCentralCrossRef Suresh D, Crawford J, Axelrad ME, Gunn SK, McCullough L, Smith OB, Sutton VR, Roth D, Karaviti LP, Dietrich JE (2013) Assessing sex assignment concordance with genotype and phenotype. Int J Pediatr Endocrinol 2013:7PubMedPubMedCentralCrossRef
82.
Zurück zum Zitat Özbaran B, Özen S, Gökşen D, Korkmaz Ö, Onay H, Özkınay F, Çoğulu Ö, Erermiş S, Köse S, Avanoğlu A, Ulman İ, Darcan Ş (2013) Psychiatric approaches for disorders of sex development: experience of a multidisciplinary team. J Clin Res Pediatr Endocrinol 5:229–235PubMedPubMedCentralCrossRef Özbaran B, Özen S, Gökşen D, Korkmaz Ö, Onay H, Özkınay F, Çoğulu Ö, Erermiş S, Köse S, Avanoğlu A, Ulman İ, Darcan Ş (2013) Psychiatric approaches for disorders of sex development: experience of a multidisciplinary team. J Clin Res Pediatr Endocrinol 5:229–235PubMedPubMedCentralCrossRef
83.
Zurück zum Zitat Sandberg D, Mazur T (2014) A non categorical approach to the psychosocial care of persons with DSD and their families. In: Kreukels BP, Steensma TD, de Vries AL (eds) Gender dysphoria and disorders of sex development. Focus on sexuality research. Springer, Berlin, pp 93–114CrossRef Sandberg D, Mazur T (2014) A non categorical approach to the psychosocial care of persons with DSD and their families. In: Kreukels BP, Steensma TD, de Vries AL (eds) Gender dysphoria and disorders of sex development. Focus on sexuality research. Springer, Berlin, pp 93–114CrossRef
84.
Zurück zum Zitat Brook CGD, Clayton P, Brown R (2009) Brook’s clinical pediatric endocrinology, 6th edn. Wiley-Blackwell, HobokenCrossRef Brook CGD, Clayton P, Brown R (2009) Brook’s clinical pediatric endocrinology, 6th edn. Wiley-Blackwell, HobokenCrossRef
85.
Zurück zum Zitat Chowdhury TK, Chowdhury MZ, Mili F, Hutson JM, Banu T (2014) Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood. Pediatr Surg Int 30:527–532PubMedCrossRef Chowdhury TK, Chowdhury MZ, Mili F, Hutson JM, Banu T (2014) Gender identity shows a high correlation with Prader score in patients with disorders of sex development (DSD) presenting in mid childhood. Pediatr Surg Int 30:527–532PubMedCrossRef
86.
Zurück zum Zitat Steensma TD, Biemond R, de Boer F, Cohen-Kettenis PT (2011) Desisting and persisting gender dysphoria after childhood: a qualitative follow-up study. Clin Child Psychol Psychiatry 16:499–516PubMedCrossRef Steensma TD, Biemond R, de Boer F, Cohen-Kettenis PT (2011) Desisting and persisting gender dysphoria after childhood: a qualitative follow-up study. Clin Child Psychol Psychiatry 16:499–516PubMedCrossRef
87.
Zurück zum Zitat Steensma TD, McGuire JK, Kreukels BP, Beekman AJ, Cohen-Kettenis PT (2013) Factors associated with desistence and persistence of childhood gender dysphoria: a quantitative follow-up study. J Am Acad Child Adolesc Psychiatry 52:582–590PubMedCrossRef Steensma TD, McGuire JK, Kreukels BP, Beekman AJ, Cohen-Kettenis PT (2013) Factors associated with desistence and persistence of childhood gender dysphoria: a quantitative follow-up study. J Am Acad Child Adolesc Psychiatry 52:582–590PubMedCrossRef
88.
Zurück zum Zitat Cohen-Kettenis PT, Delemarre-van de Waal HA, Gooren LJ (2008) The treatment of adolescent transsexuals: changing insights. J Sex Med 5:1892–1897PubMedCrossRef Cohen-Kettenis PT, Delemarre-van de Waal HA, Gooren LJ (2008) The treatment of adolescent transsexuals: changing insights. J Sex Med 5:1892–1897PubMedCrossRef
89.
Zurück zum Zitat Coleman E, Bockting W, Botzer M, Cohen-Kettenis P, DeCuypere G, Feldman J, Fraser L, Green J, Knudson G, Meyer WJ, Monstrey S, Adler RK, Brown GR, Devor AH, Ehrbar R, Ettner R, Eyler E, Garofalo R, Karasic DH, Lev AI, Mayer G, Meyer-Bahlburg H, Hall BP, Pfaefflin F, Rachlin K, Robinson B, Schechter LS, Tangpricha V, van Trotsenburg M, Vitale A, Winter S, Whittle S, Wylie KR, Zucker K (2011) Standards of care for the health of transsexual, transgender, and gender-nonconforming people, version 7. Int J Transgend 13:165–232CrossRef Coleman E, Bockting W, Botzer M, Cohen-Kettenis P, DeCuypere G, Feldman J, Fraser L, Green J, Knudson G, Meyer WJ, Monstrey S, Adler RK, Brown GR, Devor AH, Ehrbar R, Ettner R, Eyler E, Garofalo R, Karasic DH, Lev AI, Mayer G, Meyer-Bahlburg H, Hall BP, Pfaefflin F, Rachlin K, Robinson B, Schechter LS, Tangpricha V, van Trotsenburg M, Vitale A, Winter S, Whittle S, Wylie KR, Zucker K (2011) Standards of care for the health of transsexual, transgender, and gender-nonconforming people, version 7. Int J Transgend 13:165–232CrossRef
90.
Zurück zum Zitat Hembree WC, Choen-Kettenis P, Delemarre-van de Waal HA, Gooren LJ, Meyer WJ III, Spack NP, Tangpricha V, Montori VM, Endocrine Society (2009) Endocrine treatment of transsexual persons: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 94:3132–3154PubMedCrossRef Hembree WC, Choen-Kettenis P, Delemarre-van de Waal HA, Gooren LJ, Meyer WJ III, Spack NP, Tangpricha V, Montori VM, Endocrine Society (2009) Endocrine treatment of transsexual persons: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 94:3132–3154PubMedCrossRef
91.
Zurück zum Zitat Hewitt J, Zacharin M (2015) Hormone replacement in disorders of sex development: current thinking. Best Pract Res Clin Endocrinol Metab 29:437–447PubMedCrossRef Hewitt J, Zacharin M (2015) Hormone replacement in disorders of sex development: current thinking. Best Pract Res Clin Endocrinol Metab 29:437–447PubMedCrossRef
92.
Zurück zum Zitat Sadjadi S (2013) The endocrinologist’s office-puberty suppression: saving children from a natural disaster? J Med Humanit 3:255–260CrossRef Sadjadi S (2013) The endocrinologist’s office-puberty suppression: saving children from a natural disaster? J Med Humanit 3:255–260CrossRef
93.
Zurück zum Zitat Park R, Consortium on the Management of Disorders of Sex Development (2006) Clinical guidelines for the management of disorders of sex development in childhood. Intersex Society of North America, Whitehouse station, NJ Park R, Consortium on the Management of Disorders of Sex Development (2006) Clinical guidelines for the management of disorders of sex development in childhood. Intersex Society of North America, Whitehouse station, NJ
94.
Zurück zum Zitat Bukowski WM, McCauley E, Mazur T (2015) Disorders of sex development (DSD): peer relations and psychosocial well-being. Horm Metab Res 47:357–360PubMedCrossRef Bukowski WM, McCauley E, Mazur T (2015) Disorders of sex development (DSD): peer relations and psychosocial well-being. Horm Metab Res 47:357–360PubMedCrossRef
95.
Zurück zum Zitat McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42:395–412 (ix–x) PubMedCrossRef McCann-Crosby B, Sutton VR (2015) Disorders of sexual development. Clin Perinatol 42:395–412 (ix–x) PubMedCrossRef
96.
Zurück zum Zitat Sandberg DE, Gardner M, Cohen-Kettenis PT (2012) Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 30:443–452PubMedPubMedCentralCrossRef Sandberg DE, Gardner M, Cohen-Kettenis PT (2012) Psychological aspects of the treatment of patients with disorders of sex development. Semin Reprod Med 30:443–452PubMedPubMedCentralCrossRef
97.
Zurück zum Zitat DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328PubMedCrossRef DiSandro M, Merke DP, Rink RC (2015) Review of current surgical techniques and medical management considerations in the treatment of pediatric patients with disorders of sex development. Horm Metab Res 47:321–328PubMedCrossRef
98.
Zurück zum Zitat Nordenström A (2015) Psychosocial factors in disorders of sex development in a long-term perspective: what clinical opportunities are there to intervene? Horm Metab Res 47:351–356PubMedCrossRef Nordenström A (2015) Psychosocial factors in disorders of sex development in a long-term perspective: what clinical opportunities are there to intervene? Horm Metab Res 47:351–356PubMedCrossRef
99.
Zurück zum Zitat Schweizer K, Brunner F, Handford C, Richter-Appelt H (2014) Gender experience and satisfaction with gender allocation in adults with diverse intersex conditions (divergences of sex development, DSD). Psychol Sex 5:56–82 Schweizer K, Brunner F, Handford C, Richter-Appelt H (2014) Gender experience and satisfaction with gender allocation in adults with diverse intersex conditions (divergences of sex development, DSD). Psychol Sex 5:56–82
100.
Zurück zum Zitat Schönbucher V, Schweizer K, Richter-Appelt H (2010) Sexual quality of life of individuals with disorders of sex development and a 46, XY karyotype: a review of international research. J Sex Marital Ther 36:193–215PubMedCrossRef Schönbucher V, Schweizer K, Richter-Appelt H (2010) Sexual quality of life of individuals with disorders of sex development and a 46, XY karyotype: a review of international research. J Sex Marital Ther 36:193–215PubMedCrossRef
101.
Zurück zum Zitat Chadwick PM, Liao LM, Boyle M (2005) Size matters: experiences of atypical genital and sexual development in males. J Health Psychol 10:529–543PubMedCrossRef Chadwick PM, Liao LM, Boyle M (2005) Size matters: experiences of atypical genital and sexual development in males. J Health Psychol 10:529–543PubMedCrossRef
102.
Zurück zum Zitat Minto CL, Liao KLM, Conway GS, Creighton SM (2003) Sexual function in women with complete androgen insensitivity syndrome. Fertile Steril 80:157–164CrossRef Minto CL, Liao KLM, Conway GS, Creighton SM (2003) Sexual function in women with complete androgen insensitivity syndrome. Fertile Steril 80:157–164CrossRef
103.
Zurück zum Zitat Suorsa KI, Mullins AJ, Tackett AP, Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng E, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kropp B, Meyer S, Meyer T, Nokoff N, Palmer B, Poppas D, Paradis A, Yerkes E, Wisniewski AB, Mullins LL (2015) Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex. Development 194:1737–1742 Suorsa KI, Mullins AJ, Tackett AP, Reyes KJ, Austin P, Baskin L, Bernabé K, Cheng E, Fried A, Frimberger D, Galan D, Gonzalez L, Greenfield S, Kropp B, Meyer S, Meyer T, Nokoff N, Palmer B, Poppas D, Paradis A, Yerkes E, Wisniewski AB, Mullins LL (2015) Characterizing early psychosocial functioning of parents of children with moderate to severe genital ambiguity due to disorders of sex. Development 194:1737–1742
104.
Zurück zum Zitat Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL (1999) Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. J Pediatr 134:579–583PubMedCrossRef Bin-Abbas B, Conte FA, Grumbach MM, Kaplan SL (1999) Congenital hypogonadotropic hypogonadism and micropenis: effect of testosterone treatment on adult penile size why sex reversal is not indicated. J Pediatr 134:579–583PubMedCrossRef
105.
Zurück zum Zitat Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP (2015) Androgen insensitivity syndrome: management considerations from infancy to adulthood. Pediatr Endocrinol Rev 12:373–387PubMed Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP (2015) Androgen insensitivity syndrome: management considerations from infancy to adulthood. Pediatr Endocrinol Rev 12:373–387PubMed
106.
107.
Zurück zum Zitat Lee PA, Houk CP, Ahmed SF, Hughes IA (2006) International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. In: Consensus statement on management of intersex disorders. International consensus conference on intersex. pediatrics, vol 118, pp e488–e500 Lee PA, Houk CP, Ahmed SF, Hughes IA (2006) International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. In: Consensus statement on management of intersex disorders. International consensus conference on intersex. pediatrics, vol 118, pp e488–e500
108.
Zurück zum Zitat Meyer-Bahlburg HF (2011) Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency. Endocr Dev 20:88–95PubMed Meyer-Bahlburg HF (2011) Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency. Endocr Dev 20:88–95PubMed
109.
Zurück zum Zitat Meyer-Bahlburg HF, Zolezal C, Baker SW, New MI (2008) Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 37:85–99PubMedCrossRef Meyer-Bahlburg HF, Zolezal C, Baker SW, New MI (2008) Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 37:85–99PubMedCrossRef
110.
Zurück zum Zitat Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133–4160PubMedPubMedCentralCrossRef Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133–4160PubMedPubMedCentralCrossRef
111.
Zurück zum Zitat Meyer-Bahlburg HF, Dolezal C, Baker SW, Ehrhardt AA, New MI (2006) Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 35:667–684PubMedCrossRef Meyer-Bahlburg HF, Dolezal C, Baker SW, Ehrhardt AA, New MI (2006) Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav 35:667–684PubMedCrossRef
112.
Zurück zum Zitat Berembaum SA, Resnick SM (1997) Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia. Psychoneuroendocrinology 22:505–515CrossRef Berembaum SA, Resnick SM (1997) Early androgen effects on aggression in children and adults with congenital adrenal hyperplasia. Psychoneuroendocrinology 22:505–515CrossRef
113.
Zurück zum Zitat Berenbaum SA, Hines M (1992) Early androgen are related to childhood sex-typed toy preferences. Psychol Sci 3:203–206CrossRef Berenbaum SA, Hines M (1992) Early androgen are related to childhood sex-typed toy preferences. Psychol Sci 3:203–206CrossRef
114.
Zurück zum Zitat Berenbaum SA, Snyder E (1995) Early hormonal influences on childhood sex-typed activity and playmate development of sexual orientation. Dev Psychol 31:130–136CrossRef Berenbaum SA, Snyder E (1995) Early hormonal influences on childhood sex-typed activity and playmate development of sexual orientation. Dev Psychol 31:130–136CrossRef
115.
Zurück zum Zitat Dittmann RW, Kappes MH, Kappes ME, Borger D, Meyer-Bahlburg HF, Stegner H, Willig RH, Wallis H (1990) Congenital adrenal hyperplasia. I: gender-related behavior and attitudes in female patients and sisters. Psychoneuroendocrinology 15:421–434PubMedCrossRef Dittmann RW, Kappes MH, Kappes ME, Borger D, Meyer-Bahlburg HF, Stegner H, Willig RH, Wallis H (1990) Congenital adrenal hyperplasia. I: gender-related behavior and attitudes in female patients and sisters. Psychoneuroendocrinology 15:421–434PubMedCrossRef
116.
Zurück zum Zitat Slijper FM (1984) Androgens and gender role behavior in girls with congenital adrenal hyperplasia (CAH). Progr Brain Res 61:417–422CrossRef Slijper FM (1984) Androgens and gender role behavior in girls with congenital adrenal hyperplasia (CAH). Progr Brain Res 61:417–422CrossRef
117.
Zurück zum Zitat Ehrardt AA, Meywe-Bahlburg HF (1981) Effects of prenatal sex hormones on gender-related behavior. Science 211:1312–1318CrossRef Ehrardt AA, Meywe-Bahlburg HF (1981) Effects of prenatal sex hormones on gender-related behavior. Science 211:1312–1318CrossRef
118.
Zurück zum Zitat Leveroni CL, Berenbaum SA (1998) Early androgens effects on interest in infants: evidence from children with congenital adrenal hyperplasia. Dev Neuropsychol 14:321–324CrossRef Leveroni CL, Berenbaum SA (1998) Early androgens effects on interest in infants: evidence from children with congenital adrenal hyperplasia. Dev Neuropsychol 14:321–324CrossRef
119.
Zurück zum Zitat Zucker KJ, Bradely SJ, Olived G, Blake J, Fleming S, Hood J (1996) Psychosexual development of women with congenital adrenal hyperplasia. Horm Behav 30:300–318PubMedCrossRef Zucker KJ, Bradely SJ, Olived G, Blake J, Fleming S, Hood J (1996) Psychosexual development of women with congenital adrenal hyperplasia. Horm Behav 30:300–318PubMedCrossRef
120.
Zurück zum Zitat Pasterski VL, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini CL, Spencer D, Neufeld S, Hines M (2015) Increased cross-gender identification independent of gender role behavior in girls with congenital adrenal hyperplasia: results from a standardized assessment of 4- to 11-year-old children. Arch Sex Behav 44:1363–1375PubMedCrossRef Pasterski VL, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini CL, Spencer D, Neufeld S, Hines M (2015) Increased cross-gender identification independent of gender role behavior in girls with congenital adrenal hyperplasia: results from a standardized assessment of 4- to 11-year-old children. Arch Sex Behav 44:1363–1375PubMedCrossRef
121.
Zurück zum Zitat Dittman RW, Kappes ME, Kappes MH (1992) Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia. Pychoneurondocrinology 17:153–170CrossRef Dittman RW, Kappes ME, Kappes MH (1992) Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia. Pychoneurondocrinology 17:153–170CrossRef
122.
Zurück zum Zitat Hines M, Brook C, Conway GS (2004) Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res 41:75–81PubMedCrossRef Hines M, Brook C, Conway GS (2004) Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res 41:75–81PubMedCrossRef
123.
Zurück zum Zitat Kuhnle U, Bullinger M (1997) Outcome of congenital adrenal hyperplasia. Pediatr Surg Int 12:511–515PubMedCrossRef Kuhnle U, Bullinger M (1997) Outcome of congenital adrenal hyperplasia. Pediatr Surg Int 12:511–515PubMedCrossRef
124.
Zurück zum Zitat May B, Boyle M, Grant D (1996) A comparative study of sexual experiences: women with diabetes and women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Health Psychol 1:479–492PubMedCrossRef May B, Boyle M, Grant D (1996) A comparative study of sexual experiences: women with diabetes and women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Health Psychol 1:479–492PubMedCrossRef
125.
Zurück zum Zitat Meyer-Bahlburg HF (1999) What causes low rates of child-bearing in congenital adrenal hyperplasia? J Clin Endocrinol Metabol 84:1844–1847CrossRef Meyer-Bahlburg HF (1999) What causes low rates of child-bearing in congenital adrenal hyperplasia? J Clin Endocrinol Metabol 84:1844–1847CrossRef
126.
Zurück zum Zitat Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with CAH due to 21-hydroxyase deficiency. N Eng J Med 316:178–182CrossRef Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with CAH due to 21-hydroxyase deficiency. N Eng J Med 316:178–182CrossRef
127.
Zurück zum Zitat Van der Zwag YG, Janssen EH, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van de Berg M, Drop SL, Dessens AB, Beerendonk C, Dutch Study Group on DSD (2013) Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study. J Sex Med 10:866–875CrossRef Van der Zwag YG, Janssen EH, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van de Berg M, Drop SL, Dessens AB, Beerendonk C, Dutch Study Group on DSD (2013) Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study. J Sex Med 10:866–875CrossRef
128.
Zurück zum Zitat Frisen L, Nordenstrom A, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Möller A, Nordenskjöld A (2009) Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metabol 94:3432–3439CrossRef Frisen L, Nordenstrom A, Falhammar H, Filipsson H, Holmdahl G, Janson PO, Thorén M, Hagenfeldt K, Möller A, Nordenskjöld A (2009) Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metabol 94:3432–3439CrossRef
129.
Zurück zum Zitat Dessens AN, Slijper FM, Drop SL (2005) Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 34:389–397PubMedCrossRef Dessens AN, Slijper FM, Drop SL (2005) Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 34:389–397PubMedCrossRef
130.
Zurück zum Zitat Gupta DK, Shilpa S, Amini AC, Gupta M, Aggarwal G, Deepika G, Jamlesh K (2006) Congenital adrenal hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr Surg Int 22:905–909PubMedCrossRef Gupta DK, Shilpa S, Amini AC, Gupta M, Aggarwal G, Deepika G, Jamlesh K (2006) Congenital adrenal hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr Surg Int 22:905–909PubMedCrossRef
131.
Zurück zum Zitat Meyer-Bahlburg HF, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW (1996) Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav 30:319–332PubMedCrossRef Meyer-Bahlburg HF, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Vargas I, Baker SW (1996) Gender change from female to male in classical congenital adrenal hyperplasia. Horm Behav 30:319–332PubMedCrossRef
132.
Zurück zum Zitat Jorge JC, Echeverri C, Medina Y, Acevedo P (2008) Male gender identity in an XX individual with congenital adrenal hyperplasia. J Sex Med 5:122–131PubMedCrossRef Jorge JC, Echeverri C, Medina Y, Acevedo P (2008) Male gender identity in an XX individual with congenital adrenal hyperplasia. J Sex Med 5:122–131PubMedCrossRef
133.
Zurück zum Zitat Arlt W, Krone N (2007) Adult consequences of congenital adrenal hyperplasia. Horm Res 68:158–164PubMedCrossRef Arlt W, Krone N (2007) Adult consequences of congenital adrenal hyperplasia. Horm Res 68:158–164PubMedCrossRef
134.
Zurück zum Zitat Berenbaum SA, Bailey JM (2003) Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metabol 88:1102–1106CrossRef Berenbaum SA, Bailey JM (2003) Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metabol 88:1102–1106CrossRef
135.
Zurück zum Zitat Meyer-Balhlburg HF (2009) Male gender identity in a XX individuals with congenital adrenal hyperplasia. J Sex Med 6:297–298CrossRef Meyer-Balhlburg HF (2009) Male gender identity in a XX individuals with congenital adrenal hyperplasia. J Sex Med 6:297–298CrossRef
136.
Zurück zum Zitat Sharma S, Gupta DK (2008) Gender assignment and hormonal treatment for disorders at sexual differentiation. Pediatr Surg Int 24:1131–1135PubMedCrossRef Sharma S, Gupta DK (2008) Gender assignment and hormonal treatment for disorders at sexual differentiation. Pediatr Surg Int 24:1131–1135PubMedCrossRef
137.
Zurück zum Zitat Gupta D, Bharadwaj M, Sharma S, Ammini AC, Gupta DK (2010) Long-term psychosocial adjustment, satisfaction related to gender and the family equations in disorder of sexual differentiation with male sex assignment. Pediatr Surg Int 26:955–958PubMedCrossRef Gupta D, Bharadwaj M, Sharma S, Ammini AC, Gupta DK (2010) Long-term psychosocial adjustment, satisfaction related to gender and the family equations in disorder of sexual differentiation with male sex assignment. Pediatr Surg Int 26:955–958PubMedCrossRef
138.
Zurück zum Zitat Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjorl A, Frisen L, Nordenstrom A (2014) Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia; epidemiological studies in nonbiased national cohort in Sweden. J Clin Endocrinol Metab 99:1425–1432PubMedCrossRef Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjorl A, Frisen L, Nordenstrom A (2014) Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia; epidemiological studies in nonbiased national cohort in Sweden. J Clin Endocrinol Metab 99:1425–1432PubMedCrossRef
139.
Zurück zum Zitat Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F et al (2011) Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patient with primary adrenal insufficiency. Clin endocrinol (Oxf) 74:166–173CrossRef Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F et al (2011) Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patient with primary adrenal insufficiency. Clin endocrinol (Oxf) 74:166–173CrossRef
140.
Zurück zum Zitat Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP (2012) A model of delivering multi-disciplinary care to people with 46, XY DSD. J Pediatr Urol 8:7–16PubMedCrossRef Palmer BW, Wisniewski AB, Schaeffer TL, Mallappa A, Tryggestad JB, Krishnan S, Chalmers LJ, Copeland K, Chernausek SD, Reiner WG, Kropp BP (2012) A model of delivering multi-disciplinary care to people with 46, XY DSD. J Pediatr Urol 8:7–16PubMedCrossRef
141.
Zurück zum Zitat McCarty BM, Migeon CJ, Meyer-Bahlburg HF, Zacur H, Wisniewski AB (2006) Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metabol 19:873–877CrossRef McCarty BM, Migeon CJ, Meyer-Bahlburg HF, Zacur H, Wisniewski AB (2006) Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. J Pediatr Endocrinol Metabol 19:873–877CrossRef
142.
Zurück zum Zitat Cornet D, Alvarez S, Antoine JM, Tibi C, Mandelbaum J, Plachot M, Salat-Baroux J (1990) Pregnancy following ovum donation in gonadal dysgenesis. Hum Reprod 5:291–293PubMed Cornet D, Alvarez S, Antoine JM, Tibi C, Mandelbaum J, Plachot M, Salat-Baroux J (1990) Pregnancy following ovum donation in gonadal dysgenesis. Hum Reprod 5:291–293PubMed
143.
Zurück zum Zitat Michala L, Goswami D, Creighton SM, Conway GS (2008) Swyer syndrome: presentation and outcomes. BJOG 115:737–741PubMedCrossRef Michala L, Goswami D, Creighton SM, Conway GS (2008) Swyer syndrome: presentation and outcomes. BJOG 115:737–741PubMedCrossRef
144.
Zurück zum Zitat Kan AJ, Abdalla JI, Oscarsson T (1997) Two successful pregnancies in 46, XY patient. Hum Reprod 12:1434–1435PubMedCrossRef Kan AJ, Abdalla JI, Oscarsson T (1997) Two successful pregnancies in 46, XY patient. Hum Reprod 12:1434–1435PubMedCrossRef
145.
Zurück zum Zitat Plante BJ, Fritz MA (2008) A case report of successful pregnancy in a patient with pure 46, XY gonadal dysgenesis. Fertil Steril 90:2015.e1–2015.e2CrossRef Plante BJ, Fritz MA (2008) A case report of successful pregnancy in a patient with pure 46, XY gonadal dysgenesis. Fertil Steril 90:2015.e1–2015.e2CrossRef
146.
Zurück zum Zitat Selvaraj K, Ganesh V, Selvaraj P (2002) Successful pregnancy in a patient with a 46, XY karyotype. Fertil Steril 78:419–420PubMedCrossRef Selvaraj K, Ganesh V, Selvaraj P (2002) Successful pregnancy in a patient with a 46, XY karyotype. Fertil Steril 78:419–420PubMedCrossRef
147.
Zurück zum Zitat Cools M, Looijenga LH, Wollfenbuttel KP, Drop SL (2009) Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. Worl J Pediatr 5:93–102CrossRef Cools M, Looijenga LH, Wollfenbuttel KP, Drop SL (2009) Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. Worl J Pediatr 5:93–102CrossRef
149.
Zurück zum Zitat Mazur T (2005) Gender dysphoria and gender changes in androgen insensitivity or micropenis. Arch Sex Behav 34:411–421PubMedCrossRef Mazur T (2005) Gender dysphoria and gender changes in androgen insensitivity or micropenis. Arch Sex Behav 34:411–421PubMedCrossRef
150.
Zurück zum Zitat Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012) Androgen insensitivity syndrome. Lancet 380:1419–1428PubMedCrossRef Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012) Androgen insensitivity syndrome. Lancet 380:1419–1428PubMedCrossRef
151.
Zurück zum Zitat Liu AX, Shi HY, Cai ZJ, Liu A, Zhang D, Huang HF, Jin HM (2014) Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. Hum Reprod 29:1413–1419PubMedCrossRef Liu AX, Shi HY, Cai ZJ, Liu A, Zhang D, Huang HF, Jin HM (2014) Increased risk of gonadal malignancy and prophylactic gonadectomy: a study of 102 phenotypic female patients with Y chromosome or Y-derived sequences. Hum Reprod 29:1413–1419PubMedCrossRef
152.
Zurück zum Zitat Nakhal RS, Hall-Craggs M, Freeman A, Kirkham A, Conway GS, Arora R, Woodhouse CR, Wood DN, Creighton SM (2013) Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology 268:153–160PubMedCrossRef Nakhal RS, Hall-Craggs M, Freeman A, Kirkham A, Conway GS, Arora R, Woodhouse CR, Wood DN, Creighton SM (2013) Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology 268:153–160PubMedCrossRef
153.
Zurück zum Zitat Masica DN, Money J, Ehrhardt AA (1971) Fetal feminization and female gender identity in the testicular feminizing syndrome of androgen insensitivity. Arch Sex Behav 1:131–142PubMedCrossRef Masica DN, Money J, Ehrhardt AA (1971) Fetal feminization and female gender identity in the testicular feminizing syndrome of androgen insensitivity. Arch Sex Behav 1:131–142PubMedCrossRef
154.
Zurück zum Zitat Hines M, Ahmed SF, Hughes IA (2003) Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav 32:93–101PubMedCrossRef Hines M, Ahmed SF, Hughes IA (2003) Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch Sex Behav 32:93–101PubMedCrossRef
155.
Zurück zum Zitat Melo KF, Menodanca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ (2003) Clinical, hormonal, behavioral and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 88:3241–3250PubMedCrossRef Melo KF, Menodanca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ (2003) Clinical, hormonal, behavioral and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 88:3241–3250PubMedCrossRef
156.
Zurück zum Zitat Jürgensen M, Hiort O, Holterhus PM, Thyen U (2007) Gender role behavior in children with XY karyotype and disorders of sex development. Horm Behav 51:443–453PubMedCrossRef Jürgensen M, Hiort O, Holterhus PM, Thyen U (2007) Gender role behavior in children with XY karyotype and disorders of sex development. Horm Behav 51:443–453PubMedCrossRef
157.
Zurück zum Zitat Kulshreshtha B, Philibert P, Eunice M, Khandelwal SK, Mehta M, Audran F, Paris F, Sultan C, Ammini AC (2009) Apparent male gender identity in a patient with complete androgen insensitivity syndrome. Arch Sex Behav 38:873–875PubMedCrossRef Kulshreshtha B, Philibert P, Eunice M, Khandelwal SK, Mehta M, Audran F, Paris F, Sultan C, Ammini AC (2009) Apparent male gender identity in a patient with complete androgen insensitivity syndrome. Arch Sex Behav 38:873–875PubMedCrossRef
158.
Zurück zum Zitat T’Sjoen G, De Cuypere G, Monstray S, Hoebeke P, Freedman FK, Appari M, Holterhus PM, Van Borsel J, Cools M (2011) Male gender identity in complete androgen insensitivity syndrome. Arch Sex Behav 40:635–638PubMedCrossRef T’Sjoen G, De Cuypere G, Monstray S, Hoebeke P, Freedman FK, Appari M, Holterhus PM, Van Borsel J, Cools M (2011) Male gender identity in complete androgen insensitivity syndrome. Arch Sex Behav 40:635–638PubMedCrossRef
159.
Zurück zum Zitat Herdt GH, Davidson J (1988) The Sambia “turnim-man”: sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. Arch Sex Behav 17:33–56PubMedCrossRef Herdt GH, Davidson J (1988) The Sambia “turnim-man”: sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. Arch Sex Behav 17:33–56PubMedCrossRef
160.
Zurück zum Zitat Ademola Akesode F, Meyer WJ, Migeon CJ (1977) Male pseudohermaphroditism with gynecomastia due to testicular 17-ketosteroid reductase deficiency. Clin Endocrinol (Oxf) 7:443–452CrossRef Ademola Akesode F, Meyer WJ, Migeon CJ (1977) Male pseudohermaphroditism with gynecomastia due to testicular 17-ketosteroid reductase deficiency. Clin Endocrinol (Oxf) 7:443–452CrossRef
161.
Zurück zum Zitat Bertelloni S, Dati E, Hiort O (2009) Diagnosis of 17beta-hydroxysteoid dehydrogenase deficiency. Expert Rev Endocrinol Metab 4:53–65CrossRef Bertelloni S, Dati E, Hiort O (2009) Diagnosis of 17beta-hydroxysteoid dehydrogenase deficiency. Expert Rev Endocrinol Metab 4:53–65CrossRef
162.
Zurück zum Zitat Hiort O, Renecke S, Thyen U, Jürgensen M, Holterhus PM, Schön D, Richter-Appelt H (2003) Puberty in disorders of somatosexual differentiation. J Pediatr Endocrinol Metab 16:297–306PubMed Hiort O, Renecke S, Thyen U, Jürgensen M, Holterhus PM, Schön D, Richter-Appelt H (2003) Puberty in disorders of somatosexual differentiation. J Pediatr Endocrinol Metab 16:297–306PubMed
163.
Zurück zum Zitat Boehemer AL, Brinkmann AO, Sandjuij LA, Halleym DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL (1999) 17beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics and word wide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 84:4713–4721 Boehemer AL, Brinkmann AO, Sandjuij LA, Halleym DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL (1999) 17beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics and word wide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 84:4713–4721
164.
Zurück zum Zitat Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R (2013) The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature. Minerva Endocrinol 38:113–122PubMed Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R (2013) The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature. Minerva Endocrinol 38:113–122PubMed
165.
Zurück zum Zitat Jürgensen M, Hampel E, Hiort O, Thyen U (2006) “Any decision is better than none” decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency. Arch Sex Behav 35:359–571PubMedCrossRef Jürgensen M, Hampel E, Hiort O, Thyen U (2006) “Any decision is better than none” decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency. Arch Sex Behav 35:359–571PubMedCrossRef
166.
Zurück zum Zitat Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD (2000) Male pseudohermaphroditism due to 17beta-hydroxysteroid dehydrogenase-3 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 79:299–309CrossRef Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD (2000) Male pseudohermaphroditism due to 17beta-hydroxysteroid dehydrogenase-3 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 79:299–309CrossRef
167.
Zurück zum Zitat Rosler A (1992) Steroid 17beta-hydroxysteroid dehydrogenase-3 deficiency in man: an inherited form of male pseudohermaphroditism. J Steroid Biochem Mol Biol 43:989–1002PubMedCrossRef Rosler A (1992) Steroid 17beta-hydroxysteroid dehydrogenase-3 deficiency in man: an inherited form of male pseudohermaphroditism. J Steroid Biochem Mol Biol 43:989–1002PubMedCrossRef
168.
Zurück zum Zitat Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM (2013) Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? Int J Pediatr Endocrinol 2013:15PubMedPubMedCentralCrossRef Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM (2013) Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? Int J Pediatr Endocrinol 2013:15PubMedPubMedCentralCrossRef
169.
Zurück zum Zitat Deeb A, Mason C, Lee YS, Hughes IA (2005) Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 63:56–62CrossRef Deeb A, Mason C, Lee YS, Hughes IA (2005) Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 63:56–62CrossRef
170.
Zurück zum Zitat Joseph AA, Shabir I, Marumadi E, Dada R, Ammini AC, Mehta M (2013) Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. J Pediatr Endocrinol Metabol 26:915–920CrossRef Joseph AA, Shabir I, Marumadi E, Dada R, Ammini AC, Mehta M (2013) Psychosexual outcomes in three siblings with partial androgen insensitivity syndrome: impact of nature versus nurture. J Pediatr Endocrinol Metabol 26:915–920CrossRef
171.
Zurück zum Zitat Money J, Onguro C (1974) Behavioral sexology: ten cases of genetic male intersexuality with impaired prenatal and pubertal androgenization. Arch Sex Behav 3:181–205PubMedCrossRef Money J, Onguro C (1974) Behavioral sexology: ten cases of genetic male intersexuality with impaired prenatal and pubertal androgenization. Arch Sex Behav 3:181–205PubMedCrossRef
172.
Zurück zum Zitat Lee PA, Houk CP (2004) Outcome studies among men with micropenis. J Pediatr Endocrinol Metab 17:1043–1053PubMed Lee PA, Houk CP (2004) Outcome studies among men with micropenis. J Pediatr Endocrinol Metab 17:1043–1053PubMed
173.
Zurück zum Zitat Callens N, Hoebeke P (2014) Phalloplasty: a panacea for 46, XY disorders of sex development conditions with penile deficiency? Endocr Dev 24:222–233 Callens N, Hoebeke P (2014) Phalloplasty: a panacea for 46, XY disorders of sex development conditions with penile deficiency? Endocr Dev 24:222–233
174.
Zurück zum Zitat Callens N, De Cuypere G, T’Sjoen G, Monstrey S, Lumen N, Van Laecke E, Hoebeke P, Cools M (2014) Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study. World J Urol 33:137–143PubMedCrossRef Callens N, De Cuypere G, T’Sjoen G, Monstrey S, Lumen N, Van Laecke E, Hoebeke P, Cools M (2014) Sexual quality of life after total phalloplasty in men with penile deficiency: an exploratory study. World J Urol 33:137–143PubMedCrossRef
175.
Zurück zum Zitat Callens N, De Cuypere G, Van Hoecke E, T’Sjoen G, Monstrey S, Cools M, Hoebeke P (2013) Sexual quality of life after hormonal and surgical treatment, including phalloplasty in men with micropenis: a review. J Sex Med 10:3006–3018PubMedCrossRef Callens N, De Cuypere G, Van Hoecke E, T’Sjoen G, Monstrey S, Cools M, Hoebeke P (2013) Sexual quality of life after hormonal and surgical treatment, including phalloplasty in men with micropenis: a review. J Sex Med 10:3006–3018PubMedCrossRef
176.
177.
Zurück zum Zitat Diamond M, Sigmudson HK (1997) Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 151:1046–1105PubMedCrossRef Diamond M, Sigmudson HK (1997) Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med 151:1046–1105PubMedCrossRef
178.
Zurück zum Zitat Reiner WG (1997) Sex assignment in the neonate with intersex or inadequate genitalia. Arch Pediatr Adolesc Med 151:1044–1045PubMedCrossRef Reiner WG (1997) Sex assignment in the neonate with intersex or inadequate genitalia. Arch Pediatr Adolesc Med 151:1044–1045PubMedCrossRef
179.
Zurück zum Zitat Meyer-Bahlburg HF (2005) Gender identity outcome in female raised 46 XY persons with penile agenesis, cloacal exstrophy of the bladder or penile ablation. Arch Sex Behav 34:423–438PubMedCrossRef Meyer-Bahlburg HF (2005) Gender identity outcome in female raised 46 XY persons with penile agenesis, cloacal exstrophy of the bladder or penile ablation. Arch Sex Behav 34:423–438PubMedCrossRef
180.
Zurück zum Zitat Reiner WG, Gearhart JP (2004) Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Eng J Med 350:333–341CrossRef Reiner WG, Gearhart JP (2004) Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Eng J Med 350:333–341CrossRef
181.
Zurück zum Zitat Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB (2011) Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol 186:1642–1648PubMedCrossRef Diamond DA, Burns JP, Huang L, Rosoklija I, Retik AB (2011) Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists. J Urol 186:1642–1648PubMedCrossRef
182.
Zurück zum Zitat Schonbucher VB, Landolft MA, Gobert R, Weber DM (2008) Psychosexual development of children and adolescents with hypospadias. J Sex Med 5:1365–1373PubMedCrossRef Schonbucher VB, Landolft MA, Gobert R, Weber DM (2008) Psychosexual development of children and adolescents with hypospadias. J Sex Med 5:1365–1373PubMedCrossRef
183.
Zurück zum Zitat Sandberg DE, Meyer-Bahlburg HF, Yager TJ, Hensle TW, Levitt SB, Kogan SJ, Reda EF (1995) Gender development in boys born with hypospadias. Psychoneuroendocrinology 20:693–709PubMedCrossRef Sandberg DE, Meyer-Bahlburg HF, Yager TJ, Hensle TW, Levitt SB, Kogan SJ, Reda EF (1995) Gender development in boys born with hypospadias. Psychoneuroendocrinology 20:693–709PubMedCrossRef
184.
Zurück zum Zitat Inoubli A, De Cuypere G, Rubens R, Heylens G, Elaut E, Van Caenegem E, Menten B, T’Sjoen G (2011) Karyotyping, is it worthwhile in transsexualism? J Sex Med 8:475–478PubMedCrossRef Inoubli A, De Cuypere G, Rubens R, Heylens G, Elaut E, Van Caenegem E, Menten B, T’Sjoen G (2011) Karyotyping, is it worthwhile in transsexualism? J Sex Med 8:475–478PubMedCrossRef
185.
Zurück zum Zitat Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N (1991) A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi 36:117–129PubMedCrossRef Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N (1991) A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi 36:117–129PubMedCrossRef
186.
Zurück zum Zitat Fisher AD, Castellini G, Casale H, Fanni E, Bandini E, Campone B, Ferruccio N, Maseroli E, Boddi V, Dèttore D, Pizzocaro A, Balercia G, Oppo A, Ricca V, Maggi M (2015) Hypersexuality, paraphilic behaviors, and gender dysphoria in individuals with Klinefelter’s syndrome. J Sex Med 12:2413–2424PubMedCrossRef Fisher AD, Castellini G, Casale H, Fanni E, Bandini E, Campone B, Ferruccio N, Maseroli E, Boddi V, Dèttore D, Pizzocaro A, Balercia G, Oppo A, Ricca V, Maggi M (2015) Hypersexuality, paraphilic behaviors, and gender dysphoria in individuals with Klinefelter’s syndrome. J Sex Med 12:2413–2424PubMedCrossRef
187.
Zurück zum Zitat Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endocrinol Metab 20:577–598PubMedCrossRef Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endocrinol Metab 20:577–598PubMedCrossRef
188.
Zurück zum Zitat Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus PM, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N (2014) Changes over time in sex assignment for disorders of sex development. Pediatrics 134:e710–e715PubMedCrossRef Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus PM, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N (2014) Changes over time in sex assignment for disorders of sex development. Pediatrics 134:e710–e715PubMedCrossRef
189.
Zurück zum Zitat Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF (2014) Novel associations in disorders of sex development: findings from the I-DSD registry. J Clin Endocrinol Metab 99:348–355CrossRef Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF (2014) Novel associations in disorders of sex development: findings from the I-DSD registry. J Clin Endocrinol Metab 99:348–355CrossRef
190.
Zurück zum Zitat Hiort O, Wünsch L, Cools M, Looijenga L, Cuckow P (2012) Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development. J Pediatr Urol 8:624–628PubMedCrossRef Hiort O, Wünsch L, Cools M, Looijenga L, Cuckow P (2012) Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development. J Pediatr Urol 8:624–628PubMedCrossRef
Metadaten
Titel
Gender identity, gender assignment and reassignment in individuals with disorders of sex development: a major of dilemma
verfasst von
A. D. Fisher
J. Ristori
E. Fanni
G. Castellini
G. Forti
M. Maggi
Publikationsdatum
01.11.2016
Verlag
Springer International Publishing
Erschienen in
Journal of Endocrinological Investigation / Ausgabe 11/2016
Elektronische ISSN: 1720-8386
DOI
https://doi.org/10.1007/s40618-016-0482-0

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