nach oben

Journal of Assisted Reproduction and Genetics

Erschienen in:

20.09.2017 | Review

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

verfasst von: Mili Thakur, Gerald Feldman, Elizabeth E. Puscheck

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 1/2018

Einloggen, um Zugang zu erhalten

Abstract

Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear. This review focuses on the reproductive issues seen in girls and women with classic galactosemia. Literature on the effects of classic galactosemia on the female reproductive system was reviewed by an extensive Pubmed search (publications from January 1975 to January 2017) using the keywords: galactosemia, ovarian function/dysfunction, primary ovarian insufficiency/failure, FSH, oxidative stress, fertility preservation. In addition, articles cited in the search articles and literature known to the authors was also included in the review. Our understanding of the role of galactose metabolism in the ovary is limited and the pathogenic mechanisms involved in causing primary ovarian insufficiency are unclear. The relative rarity of galactosemia makes it difficult to accumulate data to determine factors defining timing of ovarian dysfunction or treatment/fertility preservation options for this group of women. In this review, we present reproductive challenges faced by women with classic galactosemia, highlight the gaps in our understanding of mechanisms leading to primary ovarian insufficiency in this population, discuss new advances in fertility preservation options, and recommend collaboration between reproductive medicine and metabolic specialists to improve fertility in these women.

Albright FS,P, Fraser R. A syndrome characterized by primary ovarian insufficiency and decreased stature. Am J Med Sci. 1942;204:625–48.CrossRef

Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009;360(6):606–14. https://doi.org/10.1056/NEJMcp0808697.PubMedPubMedCentralCrossRef

Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986;67(4):604–6.PubMed

Rafique S, Sterling EW, Nelson LM. A new approach to primary ovarian insufficiency. Obstet Gynecol Clin N Am. 2012;39(4):567–86. https://doi.org/10.1016/j.ogc.2012.09.007.CrossRef

Hoyos LR, Thakur M. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet. 2017;34(3):315–23. https://doi.org/10.1007/s10815-016-0854-6.PubMedCrossRef

Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, et al. The FMR1 premutation and reproduction. Fertil Steril. 2007;87(3):456–65. https://doi.org/10.1016/j.fertnstert.2006.09.004.PubMedCrossRef

Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol. 2006;154(5):739–44. https://doi.org/10.1530/eje.1.02135.PubMedCrossRef

Mansouri MR, Schuster J, Badhai J, Stattin EL, Losel R, Wehling M, et al. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet. 2008;17(23):3776–83. https://doi.org/10.1093/hmg/ddn274.PubMedPubMedCentralCrossRef

Shiina H, Matsumoto T, Sato T, Igarashi K, Miyamoto J, Takemasa S, et al. Premature ovarian failure in androgen receptor-deficient mice. Proc Natl Acad Sci U S A. 2006;103(1):224–9. https://doi.org/10.1073/pnas.0506736102.PubMedCrossRef

10.

Fonseca DJ, Garzon E, Lakhal B, Braham R, Ojeda D, Elghezal H, et al. Screening for mutations of the FOXO4 gene in premature ovarian failure patients. Reprod BioMed Online. 2012;24(3):339–41. https://doi.org/10.1016/j.rbmo.2011.11.017.PubMedCrossRef

11.

Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, et al. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006;79(1):113–9. https://doi.org/10.1086/505406.PubMedPubMedCentralCrossRef

12.

Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod (Oxford, England). 2004;19(12):2759–66. https://doi.org/10.1093/humrep/deh502.CrossRef

13.

Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998;62(3):533–41. https://doi.org/10.1086/301761.PubMedPubMedCentralCrossRef

14.

Vilodre LC, Kohek MB, Spritzer PM. Screening of follicle-stimulating hormone receptor gene in women with premature ovarian failure in southern Brazil and associations with phenotype. J Endocrinol Investig. 2008;31(6):552–7. https://doi.org/10.1007/bf03346407.CrossRef

15.

Cordts EB, Santos MC, Bianco B, Barbosa CP, Christofolini DM. Are FSHR polymorphisms risk factors to premature ovarian insufficiency? Gynecol Endocrinol. 2015;31(8):663–6. https://doi.org/10.3109/09513590.2015.1032933.PubMedCrossRef

16.

Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, et al. Genes governing premature ovarian failure. Reprod BioMed Online. 2010;20(6):724–40. https://doi.org/10.1016/j.rbmo.2010.02.018.PubMedCrossRef

17.

Chand AL, Harrison CA, Shelling AN. Inhibin and premature ovarian failure. Hum Reprod Update. 2010;16(1):39–50. https://doi.org/10.1093/humupd/dmp031.PubMedCrossRef

18.

Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet. 2008;82(6):1342–8. https://doi.org/10.1016/j.ajhg.2008.04.018.PubMedPubMedCentralCrossRef

19.

Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007;81(3):576–81. https://doi.org/10.1086/519496.PubMedPubMedCentralCrossRef

20.

Lourenco D, Brauner R, Lin L, De Perdigo A, Weryha G, Muresan M, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009;360(12):1200–10. https://doi.org/10.1056/NEJMoa0806228.PubMedPubMedCentralCrossRef

21.

Le Quesne SP, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, et al. STAG3 truncating variant as the cause of primary ovarian insufficiency. Eur J Hum Genet. 2016;24(1):135–8. https://doi.org/10.1038/ejhg.2015.107.CrossRef

22.

Wang J, Zhang W, Jiang H, Wu BL. Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med. 2014;370(10):972–4. https://doi.org/10.1056/NEJMc1310150.PubMedCrossRef

23.

AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015;125(1):258–62. https://doi.org/10.1172/jci78473.PubMedCrossRef

24.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, et al. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet. 2014;95(6):754–62. https://doi.org/10.1016/j.ajhg.2014.11.002.PubMedPubMedCentralCrossRef

25.

Mandon-Pepin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, et al. Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur J Endocrinol. 2008;158(1):107–15. https://doi.org/10.1530/eje-07-0400.PubMedCrossRef

26.

Qin Y, Guo T, Li G, Tang TS, Zhao S, Jiao X, et al. CSB-PGBD3 mutations cause premature ovarian failure. PLoS Genet. 2015;11(7):e1005419. https://doi.org/10.1371/journal.pgen.1005419.PubMedPubMedCentralCrossRef

27.

Jaillard S, Akloul L, Beaumont M, Hamdi-Roze H, Dubourg C, Odent S, et al. Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology. J Ovarian Res. 2016;9(1):63. https://doi.org/10.1186/s13048-016-0272-5.PubMedPubMedCentralCrossRef

28.

Qin Y, Jiao X, Simpson JL, Chen ZJ. Genetics of primary ovarian insufficiency: new developments and opportunities. Hum Reprod Update. 2015;21(6):787–808. https://doi.org/10.1093/humupd/dmv036.PubMedPubMedCentralCrossRef

29.

Rossetti R, Ferrari I, Bonomi M, Persani L. Genetics of primary ovarian insufficiency. Clin Genet. 2017;91(2):183–98. https://doi.org/10.1111/cge.12921.PubMedCrossRef

30.

Cox L, Liu JH. Primary ovarian insufficiency: an update. Int J Women’s Health. 2014;6:235–43. https://doi.org/10.2147/ijwh.s37636.

31.

Jin M, Yu Y, Huang H. An update on primary ovarian insufficiency. Sci China Life Sci. 2012;55(8):677–86. https://doi.org/10.1007/s11427-012-4355-2.PubMedCrossRef

32.

Berry GT. Galactosemia and amenorrhea in the adolescent. Ann N Y Acad Sci. 2008;1135:112–7. https://doi.org/10.1196/annals.1429.038.PubMedCrossRef

33.

Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis. 2011;34(2):357–66. https://doi.org/10.1007/s10545-010-9221-4.PubMedCrossRef

34.

Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA. Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update. 2010;16(2):177–88. https://doi.org/10.1093/humupd/dmp038.PubMedCrossRef

35.

Berry GT. Classic galactosemia and clinical variant galactosemia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews(R). Seattle: University of Washington, Seattle University of Washington; 1993. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., Seattle (WA).

36.

Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet. 1995;346(8982):1073–4.PubMedCrossRef

37.

Segal S. Galactosemia unsolved. Eur J Pediatr. 1995;154(7 Suppl 2):S97–102.PubMedCrossRef

38.

Coelho AI, Berry GT, Rubio-Gozalbo ME. Galactose metabolism and health. Curr Opin Clin Nutr Metab Care. 2015;18(4):422–7. https://doi.org/10.1097/mco.0000000000000189.PubMedCrossRef

39.

Berry GT. Disorders of galactose metabolism. In: Saudubray JM, van den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment. 5th ed. New York: Springer; 2012.

40.

Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. JIMD Rep. 2014; https://doi.org/10.1007/8904_2014_302.

41.

Hoefnagel D, Wurster-Hill D, Child EL. Ovarian failure in galactosaemia. Lancet. 1979;2(8153):1197.PubMedCrossRef

42.

Kaufman F, Kogut MD, Donnell GN, Koch H, Goebelsmann U. Ovarian failure in galactosaemia. Lancet. 1979;2(8145):737–8.PubMedCrossRef

43.

Komrower G. Ovarian failure in galactosaemia. Lancet. 1979;2(8150):1021.PubMedCrossRef

44.

Kaufman FR, Kogut MD, Donnell GN, Goebelsmann U, March C, Koch R. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med. 1981;304(17):994–8. https://doi.org/10.1056/nejm198104233041702.PubMedCrossRef

45.

Kaufman FR, Donnell GN, Roe TF, Kogut MD. Gonadal function in patients with galactosaemia. J Inherit Metab Dis. 1986;9(2):140–6.PubMedCrossRef

46.

Fraser IS, Russell P, Greco S, Robertson DM. Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia. Clin Reprod Fertil. 1986;4(2):133–8.PubMed

47.

Dessart Y, Odievre M, Evain D, Chaussain JL. Ovarian insufficiency and galactosemia. Archives francaises de pediatrie. 1982;39(5):321–2.PubMed

48.

Gubbels CS, Kuppens SM, Bakker JA, Konings CJ, Wodzig KW, de Sain-van der Velden MG, et al. Pregnancy in classic galactosemia despite undetectable anti-Mullerian hormone. Fertil Steril. 2009;91(4):1293.e1213–96. https://doi.org/10.1016/j.fertnstert.2008.12.031.CrossRef

49.

Sauer MV, Kaufman FR, Paulson RJ, Lobo RA. Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia. Fertil Steril. 1991;55(6):1197–9.PubMedCrossRef

50.

Hypogonadism and galactosemia. N Engl J Med. 1981;305(8):464–465. https://doi.org/10.1056/nejm198108203050819.

51.

Beauvais P, Guilhaume A. Ovarian insufficiency in congenital galactosemia. Presse medicale (Paris, France: 1983). 1984;13(44):2685–7.

52.

Schwarz HP, Zimmermann A, Carasso A, Zuppinger K. Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism. Acta Endocrinol Suppl (Copenh). 1986;279:428–33.

53.

Lopez Gavilanez E, Herrera Pombo JL. Hypergonadotropic hypogonadism in a woman with galactosemia. Revista Clinica Espanola. 1992;190(2):99.

54.

Gubbels CS, Land JA, Evers JL, Bierau J, Menheere PP, Robben SG, et al. Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion. J Inherit Metab Dis. 2013;36(1):29–34. https://doi.org/10.1007/s10545-012-9497-7.PubMedCrossRef

55.

Morrow RJ, Atkinson AB, Carson DJ, Carson NA, Sloan JM, Traub AI. Ovarian failure in a young woman with galactosaemia. Ulster Med J. 1985;54(2):218–20.PubMedPubMedCentral

56.

Robinson AC, Dockeray CJ, Cullen MJ, Sweeney EC. Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report. Br J Obstet Gynaecol. 1984;91(2):199–200.PubMedCrossRef

57.

Levy HL. Reproductive effects of maternal metabolic disorders: implications for pediatrics and obstetrics. Turk J Pediatr. 1996;38(3):335–44.PubMed

58.

Levy HL, Driscoll SG, Porensky RS, Wender DF. Ovarian failure in galactosemia. N Engl J Med. 1984;310(1):50.PubMed

59.

Kaufman FR, Xu YK, Ng WG, Silva PD, Lobo RA, Donnell GN. Gonadal function and ovarian galactose metabolism in classic galactosemia. Acta Endocrinol. 1989;120(2):129–33.PubMed

60.

Heidenreich RA, Mallee J, Rogers S, Segal S. Developmental and tissue-specific modulation of rat galactose-1-phosphate uridyltransferase steady state messenger RNA and specific activity levels. Pediatr Res. 1993;34(4):416–9. https://doi.org/10.1203/00006450-199310000-00006.PubMedCrossRef

61.

Xu YK, Ng WG, Kaufman FR, Lobo RA, Donnell GN. Galactose metabolism in human ovarian tissue. Pediatr Res. 1989;25(2):151–5. https://doi.org/10.1203/00006450-198902000-00015.PubMedCrossRef

62.

Jozwik M, Jozwik M, Teng C, Battaglia FC. Concentrations of monosaccharides and their amino and alcohol derivatives in human preovulatory follicular fluid. Mol Hum Reprod. 2007;13(11):791–6. https://doi.org/10.1093/molehr/gam060.PubMedCrossRef

63.

Forges T, Monnier-Barbarino P, Leheup B, Jouvet P. Pathophysiology of impaired ovarian function in galactosaemia. Hum Reprod Update. 2006;12(5):573–84. https://doi.org/10.1093/humupd/dml031.PubMedCrossRef

64.

Chen YT, Mattison DR, Feigenbaum L, Fukui H, Schulman JD. Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science (New York, NY). 1981;214(4525):1145–7.CrossRef

65.

Tang M, Siddiqi A, Witt B, Yuzyuk T, Johnson B, Fraser N, et al. Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Eur J Hum Genet. 2014;22(10):1172–9. https://doi.org/10.1038/ejhg.2014.12.PubMedPubMedCentralCrossRef

66.

Song X, Bao M, Li D, Li YM. Advanced glycation in D-galactose induced mouse aging model. Mech Ageing Dev. 1999;108(3):239–51.PubMedCrossRef

67.

Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech. 2013;6(1):84–94. https://doi.org/10.1242/dmm.010207.PubMedCrossRef

68.

Slepak T, Tang M, Addo F, Lai K. Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model. Mol Genet Metab. 2005;86(3):360–71. https://doi.org/10.1016/j.ymgme.2005.08.002.PubMedCrossRef

69.

Meyer WR, Doyle MB, Grifo JA, Lipetz KJ, Oates PJ, DeCherney AH, et al. Aldose reductase inhibition prevents galactose-induced ovarian dysfunction in the Sprague-Dawley rat. Am J Obstet Gynecol. 1992;167(6):1837–43.PubMedCrossRef

70.

Liu G, Hale GE, Hughes CL. Galactose metabolism and ovarian toxicity. Reprod Toxicol (Elmsford, NY). 2000;14(5):377–84.CrossRef

71.

Thakur M, Shaeib F, Khan SN, Kohan-Ghadr HR, Jeelani R, Aldhaheri SR, et al. Galactose and its metabolites deteriorate metaphase II mouse oocyte quality and subsequent embryo development by disrupting the spindle structure. Sci Rep. 2017;7(1):231. https://doi.org/10.1038/s41598-017-00159-y.PubMedPubMedCentralCrossRef

72.

Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS, et al. Systemic gene dysregulation in classical galactosaemia: is there a central mechanism? Mol Genet Metab. 2014;113(3):177–87. https://doi.org/10.1016/j.ymgme.2014.08.004.PubMedCrossRef

73.

Banerjee S, Chakraborty P, Saha P, Bandyopadhyay SA, Banerjee S, Kabir SN. Ovotoxic effects of galactose involve attenuation of follicle-stimulating hormone bioactivity and up-regulation of granulosa cell p53 expression. PLoS One. 2012;7(2):e30709. https://doi.org/10.1371/journal.pone.0030709.PubMedPubMedCentralCrossRef

74.

Ulloa-Aguirre A, Timossi C, Damian-Matsumura P, Dias JA. Role of glycosylation in function of follicle-stimulating hormone. Endocrine. 1999;11(3):205–15. https://doi.org/10.1385/endo:11:3:205.PubMedCrossRef

75.

Ng WG, Xu YK, Kaufman FR, Donnell GN. Deficit of uridine diphosphate galactose in galactosaemia. J Inherit Metab Dis. 1989;12(3):257–66.PubMedCrossRef

76.

Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ. GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology. 2003;13(4):285–94. https://doi.org/10.1093/glycob/cwg033.PubMedCrossRef

77.

Gubbels CS, Thomas CM, Wodzig WK, Olthaar AJ, Jaeken J, Sweep FC, et al. FSH isoform pattern in classic galactosemia. J Inherit Metab Dis. 2011;34(2):387–90. https://doi.org/10.1007/s10545-010-9180-9.PubMedCrossRef

78.

Lai K, Tang M, Yin X, Klapper H, Wierenga K, Elsas L. ARHI: a new target of galactose toxicity in classic galactosemia. Biosci Hypotheses. 2008;1(5):263–71. https://doi.org/10.1016/j.bihy.2008.06.011.PubMedPubMedCentralCrossRef

79.

Liu G, Shi F, Blas-Machado U, Yu R, Davis VL, Foster WG, et al. Dietary galactose inhibits GDF-9 mediated follicular development in the rat ovary. Reprod Toxicol (Elmsford, NY). 2006;21(1):26–33. https://doi.org/10.1016/j.reprotox.2005.07.001.CrossRef

80.

ten Hoedt AE, Maurice-Stam H, Boelen CC, Rubio-Gozalbo ME, van Spronsen FJ, Wijburg FA, et al. Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis. 2011;34(2):391–8. https://doi.org/10.1007/s10545-010-9267-3.PubMedPubMedCentralCrossRef

81.

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, et al. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertil Steril. 2017;108(1):168–74. https://doi.org/10.1016/j.fertnstert.2017.05.013.PubMedCrossRef

82.

Badik JR, Castaneda U, Gleason TJ, Spencer JB, Epstein MP, Ficicioglu C, et al. Ovarian function in Duarte galactosemia. Fertil Steril. 2011;96(2):469–473.e461. https://doi.org/10.1016/j.fertnstert.2011.05.088.PubMedPubMedCentralCrossRef

83.

Gubbels CS, Land JA, Rubio-Gozalbo ME. Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv. 2008;63(5):334–43. https://doi.org/10.1097/OGX.0b013e31816ff6c5.PubMedCrossRef

84.

Schadewaldt P, Hammen HW, Kamalanathan L, Wendel U, Schwarz M, Bosch AM, et al. Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature. Eur J Pediatr. 2009;168(6):721–9. https://doi.org/10.1007/s00431-008-0832-9.PubMedCrossRef

85.

de Jongh S, Vreken P, IJst L, Wanders RJ, Jakobs C, Bakker HD. Spontaneous pregnancy in a patient with classical galactosaemia. J Inherit Metab Dis. 1999;22(6):754–5.PubMedCrossRef

86.

Briones P, Giros M, Martinez V. Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation. J Inherit Metab Dis. 2001;24(1):79–80.PubMedCrossRef

87.

Bernardo MM, Meng Y, Lockett J, Dyson G, Dombkowski A, Kaplun A, et al. Maspin reprograms the gene expression profile of prostate carcinoma cells for differentiation. Genes Cancer. 2011;2(11):1009–22. https://doi.org/10.1177/1947601912440170.PubMedPubMedCentralCrossRef

88.

Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, et al. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012;35(6):1037–49. https://doi.org/10.1007/s10545-012-9477-y.PubMedPubMedCentralCrossRef

89.

Drobac S, Rubin K, Rogol AD, Rosenfield RL. A workshop on pubertal hormone replacement options in the United States. J Pediatric Endocrinol Metab. 2006;19(1):55–64.CrossRef

90.

Kiess W, Conway G, Ritzen M, Rosenfield R, Bernasconi S, Juul A, et al. Induction of puberty in the hypogonadal girl—practices and attitudes of pediatric endocrinologists in Europe. Horm Res. 2002;57(1–2):66–71.PubMed

91.

Panis B, Forget PP, van Kroonenburgh MJ, Vermeer C, Menheere PP, Nieman FH, et al. Bone metabolism in galactosemia. Bone. 2004;35(4):982–7. https://doi.org/10.1016/j.bone.2004.06.004.PubMedCrossRef

92.

Panis B, Vermeer C, van Kroonenburgh MJ, Nieman FH, Menheere PP, Spaapen LJ, et al. Effect of calcium, vitamins K1 and D3 on bone in galactosemia. Bone. 2006;39(5):1123–9. https://doi.org/10.1016/j.bone.2006.05.002.PubMedCrossRef

93.

Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, et al. Skeletal health in adult patients with classic galactosemia. Osteoporos Int. 2013;24(2):501–9. https://doi.org/10.1007/s00198-012-1983-0.PubMedCrossRef

94.

Gajewska J, Ambroszkiewicz J, Radomyska B, Chelchowska M, Oltarzewski M, Laskowska-Klita T, et al. Serum markers of bone turnover in children and adolescents with classic galactosemia. Adv Med Sci. 2008;53(2):214–20. https://doi.org/10.2478/v10039-008-0026-8.PubMedCrossRef

95.

Rubio-Gozalbo ME, Hamming S, van Kroonenburgh MJ, Bakker JA, Vermeer C, Forget PP. Bone mineral density in patients with classic galactosaemia. Arch Dis Child. 2002;87(1):57–60.PubMedPubMedCentralCrossRef

96.

Kaufman FR, Loro ML, Azen C, Wenz E, Gilsanz V. Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr. 1993;123(3):365–70.PubMedCrossRef

97.

Panis B, van Kroonenburgh MJ, Rubio-Gozalbo ME. Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia. J Inherit Metab Dis. 2007;30(6):982. https://doi.org/10.1007/s10545-007-0676-x.PubMedCrossRef

98.

Manis FR, Cohn LB, McBride-Chang C, Wolff JA, Kaufman FR. A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine. J Inherit Metab Dis. 1997;20(4):549–55.PubMedCrossRef

99.

Tang M, Odejinmi SI, Vankayalapati H, Wierenga KJ, Lai K. Innovative therapy for classic galactosemia—tale of two HTS. Mol Genet Metab. 2012;105(1):44–55. https://doi.org/10.1016/j.ymgme.2011.09.028.PubMedCrossRef

100.

Loren AW, Mangu PB, Beck LN, Brennan L, Magdalinski AJ, Partridge AH, et al. Fertility preservation for patients with cancer: American Society of Clinical Oncology clinical practice guideline update. J Clin Oncol. 2013;31(19):2500–10. https://doi.org/10.1200/jco.2013.49.2678.PubMedPubMedCentralCrossRef

101.

ACOG: Committee Opinion No. 584: oocyte cryopreservation. Obstet Gynecol. 2014;123 (1):221–222. https://doi.org/10.1097/01.AOG.0000441355.66434.6d.

102.

Salama M, Woodruff TK. New advances in ovarian autotransplantation to restore fertility in cancer patients. Cancer Metastasis Rev. 2015;34(4):807–22. https://doi.org/10.1007/s10555-015-9600-2.PubMedPubMedCentralCrossRef

103.

van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, et al. Fertility preservation in female classic galactosemia patients. Orphanet J Rare Dis. 2013;8:107. https://doi.org/10.1186/1750-1172-8-107.PubMedPubMedCentralCrossRef

104.

Forges T, Monnier P, Leheup B, Cheillan D, Brivet M, Barbarino A, et al. Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. Fertil Steril. 2011;95(1):290.e291–3. https://doi.org/10.1016/j.fertnstert.2010.06.014.CrossRef

105.

Recommendations for gamete and embryo donation: a committee opinion. Fertil Steril. 2013;99 (1):47–62. https://doi.org/10.1016/j.fertnstert.2012.09.037.

106.

Shea LD, Woodruff TK, Shikanov A. Bioengineering the ovarian follicle microenvironment. Annu Rev Biomed Eng. 2014;16:29–52. https://doi.org/10.1146/annurev-bioeng-071813-105131.PubMedPubMedCentralCrossRef

107.

Skory RM, Xu Y, Shea LD, Woodruff TK. Engineering the ovarian cycle using in vitro follicle culture. Hum Reprod (Oxford, England). 2015;30(6):1386–95. https://doi.org/10.1093/humrep/dev052.CrossRef

108.

Zhai J, Yao G, Dong F, Bu Z, Cheng Y, Sato Y, et al. In vitro activation of follicles and fresh tissue auto-transplantation in primary ovarian insufficiency patients. J Clin Endocrinol Metab. 2016;101(11):4405–12. https://doi.org/10.1210/jc.2016-1589.PubMedPubMedCentralCrossRef

109.

Kawamura K, Kawamura N, Hsueh AJ. Activation of dormant follicles: a new treatment for premature ovarian failure? Curr Opin Obstet Gynecol. 2016;28(3):217–22. https://doi.org/10.1097/gco.0000000000000268.PubMedPubMedCentralCrossRef

110.

Truman AM, Tilly JL, Woods DC. Ovarian regeneration: the potential for stem cell contribution in the postnatal ovary to sustained endocrine function. Mol Cell Endocrinol. 2017;445:74–84. https://doi.org/10.1016/j.mce.2016.10.012.PubMedCrossRef

111.

Woodruff TK. Oncofertility: a grand collaboration between reproductive medicine and oncology. Reproduction (Cambridge, England). 2015;150(3):S1–10. https://doi.org/10.1530/rep-15-0163.CrossRef

Titel: Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities
verfasst von: Mili Thakur
Gerald Feldman
Elizabeth E. Puscheck
Publikationsdatum: 20.09.2017
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 1/2018
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-017-1039-7

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

28.05.2024 Kinder- und Jugendgynäkologie Nachrichten

Welchen Einfluss das Alter ihrer Mutter auf das Risiko hat, dass Kinder mit nicht chromosomal bedingter Malformation zur Welt kommen, hat eine ungarische Studie untersucht. Sie zeigt: Nicht nur fortgeschrittenes Alter ist riskant.

Fehlerkultur in der Medizin – Offenheit zählt!

28.05.2024 Fehlerkultur Podcast

Darüber reden und aus Fehlern lernen, sollte das Motto in der Medizin lauten. Und zwar nicht nur im Sinne der Patientensicherheit. Eine negative Fehlerkultur kann auch die Behandelnden ernsthaft krank machen, warnt Prof. Dr. Reinhard Strametz. Ein Plädoyer und ein Leitfaden für den offenen Umgang mit kritischen Ereignissen in Medizin und Pflege.

Mammakarzinom: Brustdichte beeinflusst rezidivfreies Überleben

26.05.2024 Mammakarzinom Nachrichten

Frauen, die zum Zeitpunkt der Brustkrebsdiagnose eine hohe mammografische Brustdichte aufweisen, haben ein erhöhtes Risiko für ein baldiges Rezidiv, legen neue Daten nahe.

Mehr Lebenszeit mit Abemaciclib bei fortgeschrittenem Brustkrebs?

24.05.2024 Mammakarzinom Nachrichten

In der MONARCHE-3-Studie lebten Frauen mit fortgeschrittenem Hormonrezeptor-positivem, HER2-negativem Brustkrebs länger, wenn sie zusätzlich zu einem nicht steroidalen Aromatasehemmer mit Abemaciclib behandelt wurden; allerdings verfehlte der numerische Zugewinn die statistische Signifikanz.

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

Abstract

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

Fehlerkultur in der Medizin – Offenheit zählt!

Mammakarzinom: Brustdichte beeinflusst rezidivfreies Überleben

Mehr Lebenszeit mit Abemaciclib bei fortgeschrittenem Brustkrebs?

Update Gynäkologie

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2018

Polycystic ovary syndrome throughout a woman’s life

Allogeneic ovarian transplantation using immunomodulator preimplantation factor (PIF) as monotherapy restored ovarian function in olive baboon

Author Correction: Association between G1733A (rs6152) polymorphism in androgen receptor gene and recurrent spontaneous abortions in Mexican population

Breaking new ground on the ovary construction project

Sub-fertile sperm cells exemplify telomere dysfunction

Antral follicle responsiveness to FSH, assessed by the follicular output rate (FORT), is altered in Hodgkin’s lymphoma when compared with breast cancer candidates for fertility preservation

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Alter der Mutter beeinflusst Risiko für kongenitale Anomalie

Fehlerkultur in der Medizin – Offenheit zählt!

Mammakarzinom: Brustdichte beeinflusst rezidivfreies Überleben

Mehr Lebenszeit mit Abemaciclib bei fortgeschrittenem Brustkrebs?

Update Gynäkologie