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Journal of Endocrinological Investigation

Erschienen in:

01.01.2016 | Review

Growth hormone insensitivity: diagnostic and therapeutic approaches

verfasst von: S. Kurtoğlu, N. Hatipoglu

Erschienen in: Journal of Endocrinological Investigation | Ausgabe 1/2016

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Abstract

Introduction

Growth hormone resistance defines several genetic (primary) and acquired (secondary) pathologies that result in completely or partially interrupted activity of growth hormone. An archetypal disease of this group is the Laron-type dwarfism caused by mutations in growth hormone receptors. The diagnosis is based on high basal levels of growth hormone, low insulin like growth factor-I (IGF-1) level, unresponsiveness to IGF generation test and genetic testing. Recombinant IGF-1 preparations are used in the treatment

Conclusion

In this article, clinical characteristics, diagnosis and therapeutic approaches of the genetic and other diseases leading to growth hormone insensitivity are reviewed.

Chernausek SD, Horn JA (1998) Growth hormone resistance: biologic implications. J Endocrinol Invest 21:18–23

Richmond EJ, Rogol AD (2008) Recombinant human insulin-like growth factor-1 therapy for children with growth disorders. Adv Ther 25:1276–1287CrossRefPubMed

Rosenbloom AL (1999) Growth hormone insensitivity: physiologic and genetic basis, phenotype, and treatment. J Pediatr 135:280–289CrossRefPubMed

Rosenbloom AL (2009) Mecasermin (Recombinant human insulin-like growth factor 1). Adv Ther 26:40–54CrossRefPubMed

Laron Z, Pettzelan A, Mannheimer S (1966) Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism? Isr J Med Sci 2:152–155PubMed

Laron Z (1999) Natural hystory of the classical form of primary growth hormone resistance (Laron syndrome). JPEM 12:231–249PubMed

Johnson LB, Woods KA, Rose SJ, Clark AJL, Savage MO (1998) The broad spectrum of inherited growth hormone insensitivity syndrome. TEM 9:228–232

Yordam N, Kandemir N, Erkul I, Kurtoglu S, Hatun S (1995) Review of Turkish patients with growth hormone insensitivity (Laron type). Eur J Endocrinol 133:539–542CrossRefPubMed

Domone HM, Bengolea SV, Jasper HG, Boisclair YR (2005) Acide-labile subunit deficiency: phenotypic similarities and differences between human and Mouse. J Endocrinol Invest 28(Suppl 5):43–46

10.

Laron Z, Blum W, Chatelain P, Ranke M, Rosenfold R, Savage M, Underwood L (1993) Classification of growth hormone insensitivity syndrome. J Pediatr 122:241CrossRefPubMed

11.

David A, Hwa V, Metherell LA et al (2011) Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev 32:472–497CrossRefPubMed

12.

Laron Z, Ginsberg S, Lilos P, Arbiv M, Vaisman N (2006) Body composition in untreated adult patients with Laron syndrome (primary GH insensitivity). Clin Endocrinol Oxf 65:114–117CrossRefPubMed

13.

Burren CP, Woods KA, Rose SJ et al (2001) Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity. Horm Res 55:125–130CrossRefPubMed

14.

David A, Metherell LA, Clark AJL, Camacho-Hübner C, Savage MO (2005) Diagnostic and therapeutic advances in growth hormone insensitivity. Endocrinol Metab Clin N Am 34:581–595CrossRef

15.

Johnston LB, Savage MO (1999) Partial growth hormone insensitivity. JPEM 12:251–257PubMed

16.

Backeljauw PF, Chernausek SD (2012) The insulin-like growth factors and growth disorders of childhood. Endocrinol Metab Clin N Am 41:265–282CrossRef

17.

Blum WF, Cotterill AM, Postelninay MC, Ranke MB, Savage MO, Witon P (1994) Improvement of diagnosis criteria in growth hormone insensitivity syndrome: solutions and pitfalls. Acta Paediatr Suppl 399:117–124CrossRefPubMed

18.

Marzullo P, Buckway C, Pratt KL, Colao A, Guevara-Aguirre J, Rosenfeld RG (2002) Leptin concentrations in GH deficiency: the effect of GH insensitivity. J Clin Endocrinol Metab 87:540–545CrossRefPubMed

19.

Spiliotis BE, Alexandries TK, Karystianos C et al (2009) The insulin-like growth factor-1 (IGF-1) generation test as an indicator of growth hormone status. Hormones 8:117–128CrossRefPubMed

20.

Rudman D, Kutner MH, Blackston RD, Cushman RA, Bain RP, Patterson JH (1981) Children with normal-variant short stature: treatment with human growth hormone for six months. N Eng J Med 305:123–131CrossRef

21.

Darendeliler F, Ocal C, Bas F (2005) Evaluation of insulin-like factor (IGF-1) and IGF binding protein-3 generation test in short stature. JPEM 18:443–452PubMed

22.

Cotterill AM, Camacho-Hubner C, Woods K, Martinelli C, Duqesnoy P, Savage MO (1994) The insulin-like growth factor-1 generation test in the investigation of short stature. Acta Paediatr Suppl 399:128–130CrossRefPubMed

23.

Chyrsis DC, Alexandrides TK, Koromantzou E et al (2001) Novel application of IGF-1 and IGFBP-3 generation tests in the diagnosis of growth hormone axis disturbances in children with beta-thalassemia. Clin Endocrinol 54:253–259CrossRef

24.

Buckway CK, Guevara-Aguirre J, Pratt KL, Burren CP, Rosenfeld RG (2001) The IGF-1 generation test revisited: a marker of growth hormone insensitivity. JCEM 86:5176–5183PubMed

25.

Buckway CK, Selva KA, Pratt KL, Tjoeng E, Guevara-Aguirre J, Rosenfeld RG (2002) Insulin-like factor binding protein-3 generation as a measure of growth hormone insensitivity. JCEM 87:4754–4765PubMed

26.

Turan S, Bereket A, Furman A et al (2007) The effect of economic status on height, insulin-like growth factor (IGF)-I and IGF binding protein-3 concentrations in healthy Turkish children. Eur J Clin Nutr 61:752–758CrossRefPubMed

27.

Coutant R, Dörr HG, Gleeson H, Argente J (2012) Limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol 166:351–357CrossRefPubMed

28.

Arman A, Ozon A, Isguven PS, Coker A, Peker I, Yordam N (2008) Novel slice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism. JPEM 21:47–58CrossRefPubMed

29.

Bonioli E, Taro M, LaRosa G et al (2005) Heterozygos mutations of growth hormone receptor gene in children with idiopathic short stature. Growth Hormon IGF Res 15:405–410CrossRef

30.

Sobrier ML, Dastot F, Duguesnoy P et al (1997) Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. JCEM 82:435–437PubMed

31.

Wit JM, van Duyvenvoorde HA, Scheltinga SA et al (2012) Genetic analysis of short children with apparent growth hormone insensitivity. Horm Res Paediatr 77:320–333CrossRefPubMed

32.

Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA (2011) Genetic defects in the growth hormone-IGF-1 axis causing growth hormone insensitivity and impaired lineer growth. Front Endocrinol 2:1–12CrossRef

33.

Laron Z (2013) If one daily injection of IGF-I has the same growth-promoting effect as 2 injections per day, why continue to give two injections? Pediatr Endocrinol Rev 10:277–279PubMed

34.

Ranke MB, Savage MO, Chatelain PG, Preece MA, Rosenfeld RG, Wilton P (1999) Long term traetment of GHIS with IGF-1. Results of the European multicenter study. Horm Res 51:128–134CrossRefPubMed

35.

Camacho-Hübner C, Rose S, Preece MA, Sleevi M, Storr HL et al (2006) Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome. J Clin Endocrinol Metab 91:1246–1253CrossRefPubMed

36.

Balhara B, Misra M, Levitsky LL (2012) Recombinant human IGF-1 (Insulin-like growth factor) therapy: where do we stand today? Indian J Pediatr 79:244–249CrossRefPubMed

37.

Hwa V, Nadeau K, Wit JM, Rosenfeld RG (2011) STAT5b deficiency: lessons from STAT5b gene mutations. Best Pract Res Clin Endocrinol Metab 25:61–75CrossRefPubMed

38.

Rosenfeld RG, Belgorosky A, Camacho-Hubner C, Savage MO, Wit JM, Hwa V (2007) Defects in growth hormone receptor signaling. Trends Endocrinol Metab 18:134–141CrossRefPubMed

39.

Woods KA, Camacho-Hübner C, Savage MO, Clark AJL (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor 1 gene. N Eng J Med 335:1363–1367CrossRef

40.

Saenger P, Czernichow P, Hughes I, Reiter EO (2007) Small for gestational age: Short stature and beyond. Endocr Rev 28:219–251CrossRefPubMed

41.

Chernausek SD (2006) Mendelian genetic causes of the short child born small for gestational age. J Endocrinol Invest 29:16–20CrossRefPubMed

42.

Domené HM, Bengolea SV, Martínez AS (2004) Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med 350:570–577CrossRefPubMed

43.

Domené HM, Hwa V, Jasper HG, Rosenfeld RG (2011) Acid-labile subunit (ALS) deficiency. Best Pract Res Clin Endocrinol Metab 25:101–113CrossRefPubMed

44.

Kowarski AA, Schneider J, Ben-Galim E, Weldon VV, Daughaday WH (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. J Clin Endocrinol Metab 47:461–464CrossRefPubMed

45.

Ahangari G, Ostadali MR, Rabani A, Rashidian J, Sanati MH, Zarindast MR (2004) Growth hormone antibodies formation in patients treated with recombinant human growth hormone. Int J Immunopathol Pharmacol 17:33–38PubMed

46.

Massa G, Vanderschueren-Lodeweyckx M, Bouillon R (1993) Five-year follow-up of growth hormone antibodies in growth hormone deficient children treated with recombinant human growth hormone. Clin Endocrinol Oxf 38:137–142CrossRefPubMed

47.

Lan H, Li W, Fu Z et al (2014) Differential intracellular signalling properties of the growth hormone receptor induced by the activation of an anti-GHR antibody. Mol Cell Endocrinol 390:54–64CrossRefPubMed

48.

Lattuada D, Casnici C, Perego C et al (2000) Monoclonal antibody against human growth hormone receptor. Hybridoma 19:177–183CrossRefPubMed

49.

Cappa M, Loche S (2003) Evaluation of growth disorders in the paediatric clinic. J Endocrinol Invest 26(7 Suppl):54–63PubMed

50.

Alagille D, Odievre M, Gautier M, Dommergues JP (1975) Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac failure. J Pediatr 86:63–71CrossRefPubMed

51.

Kim MS, Quintos JB (2008) Mauriac syndrome: growth failure and type 1 diabetes mellitus. Pediatr Endocrinol Rev 5:989–993PubMed

52.

Ranke MB (1996) Towards a concensus on the definition of idiopathic short stature. Horm Res 45(Suppl 2):64–66CrossRefPubMed

53.

Attie KM (2000) Genetic studies in idiopathic short stature. Curr Opin Pediatr 12:400–404CrossRefPubMed

54.

Kiess W, Kratzsch J, Pfaeffle R (2006) The growth hormone and insulin-like growth factor system in girls and women with Turner syndrome. Int Congr Series 1298:63–70CrossRef

55.

Binder G, Neuer K, Ranke MB, Wittekindt NE (2005) PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. JCEM 90:5377–5381PubMed

Titel: Growth hormone insensitivity: diagnostic and therapeutic approaches
verfasst von: S. Kurtoğlu
N. Hatipoglu
Publikationsdatum: 01.01.2016
Verlag: Springer International Publishing
Erschienen in: Journal of Endocrinological Investigation / Ausgabe 1/2016
Elektronische ISSN: 1720-8386
DOI: https://doi.org/10.1007/s40618-015-0327-2

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Abstract

Introduction

Conclusion

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