Isolated growth hormone deficiency

Pituitary

Volumn 10, Issue 4, 2007, Pages 351-357

  Hernálndez, Libia M ^a   Lee, Phillip D K ^b,c   Camacho Hübner, Cecilia ^a,d  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c EMD SERONO INC   (United States)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Growth hormone; Growth hormone deficiency; Growth hormone releasing hormone; Pituitary

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE 1; GROWTH HORMONE RELEASING FACTOR RECEPTOR; RECOMBINANT PROTEIN; RECOMBINANT SOMATOMEDIN BINDING PROTEIN 3; RECOMBINANT SOMATOMEDIN C; UNCLASSIFIED DRUG;

COMPLEX FORMATION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; GENE DELETION; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOME ANALYSIS; GROWTH HORMONE DEFICIENCY; HORMONE SUBSTITUTION; HUMAN; HYPOPHYSIS; IDIOPATHIC DISEASE; MISSENSE MUTATION; MONOTHERAPY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SHORT STATURE;

CHILD; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; HYPOPITUITARISM;

EID: 36249025588     PISSN: 1386341X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11102-007-0073-3     Document Type: Review

References (62)

1. Rona RJ, Tanner JM (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child 52:197-208
2. Vimpani GV, Vimpani AF, Lidgard GP, Cameron EH, Farquhar JW (1977) Prevalence of severe growth hormone deficiency. Br Med J 2:427-430
3. Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M (1994) Utah growth study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr 125:29-35
4. Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA III, Souza AHO, Gondo RG, Toledo SPA, Conceicao MM, Prince M, Maheshwari HG, Baumann G, Levine MA (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab 84:917-923
5. Cacciari E, Zucchini S, Carlà G, Pirraxoli P, Cicognani A, Mandini M, Busacca M, Trevisian C (1990) Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance. Arch Dis Child 65:1199-1202
6. Moseley CT, Orenstein MD, Phillips JA III (2002) GH gene deletions and IGHD type IA. Rev Endocr Metab Disord 3:339-346
7. Phillips JA III, Cogan JD (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 78:11-16
8. Chen EY, Liao YC, Smith DH, Barerra-Saldana HA, Gelinas RE, Seeburg PH (1989) The human growth hormone locus: Nucleotide sequence, biology, and evolution. Genomics 4:479-487
9. Mullis PE, Robinson ICAF, Salemi S, Eble A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G (2005) Isolated autosomal dominant growth hormone deficiency: An evolving pituitary deficit? A multicenter follow-up study. J Clin Endocrinol Metab 90:2089-2096
10. Kamijo T, Hayashi Y, Seo H, Ogawa M (1999) Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients. GH IGF Res 9:31-36
11. Wagner JK, Eble A, Hindmarsh PC, Mullis PE (1998) Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 43:105-110
12. Conley ME, Burks AW, Herrod HC, Puck JM (1991) Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency. J Pediatr 119:392-397
13. Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M, Namba H, Ninomiya S, Higuchi J, Seino Y (1992) Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3-q21.2). Am J Med Genet 42:660-664
14. Procter AM, Phillips JA III, Cooper DN (1998) The molecular genetics of growth hormone deficiency. Hum Genet 103:255-272
15. Gaylinn BD (1999) Molecular and cellular biology of the growth hormone-releasing hormone receptor. GH IGF Res 9:37-44
16. Mayo KE (1992) Molecular cloning and expression of a pituitary specific receptor for growth hormone-releasing hormone. Mol Endocrinol 6:1734-1744
17. Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO (1993) Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol 7:77-84
18. Lin C, Lin SC, Chang CP, Rosenfeld MG (1992) Pit-I-dependent expression of the receptor for growth hormone releasing factor mediates pituitary cell growth. Nature 360:765-768
19. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC, Leibel RL (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 12:88-90
20. Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S (1998) Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab 83:432-436
21. Maheshwari HG, Silverman BL, Dupuis J, Baumann G (1998) Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab 83:4065-4074
22. Baumann G, Maheshwari H (1997) The dwarfs of Sindh: Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr 423(Suppl):33-38
23. Kamijo T, Hayashi Y, Seo H, Yamamoto M, Ogawa M, Choski CS, Sawant NJ, Colaco MP, Desai MP (2004) A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in western region of India: Founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene. GH IGF Res 14:394-401
24. Desai MP, Upadhye PS, Kamijo T, Yamamoto M, Ogawa M, Hayashi Y, Seo H, Nair SR (2005) Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: A study from western India. J Pediatr Endocrinol Metab 18:955-973
25. Salvatori R, Fan X, Mullis PE, Haile A, Levine MA (2002) Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Mol Endocrinol 16:450-458
26. Salvatori R, Fan X, Phillips JA III, Espigares-Martin R, de Lara IM, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA (2001) Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J Clin Endocrinol Metab 86:273-279
27. Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA, Levine MA, Salvatori R (2003) A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol 148:25-30
28. Aguiar-Oliveira MH, Gill MS, Barreto de AE, Alcântara MRS, Miraki-Moud F, Menezes CA, Souza AHO, Martinelli CE, Pereira FA, Salvatori R, Levine MA, Shalet SM, Camacho-Hübner C, Clayton PE (1999) Effect of severe growth hormone deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins and ternary complex formation throughout life. J Clin Endocrinol Metab 84:4118-4126
29. Haskin O, Lazar L, Jaber L, Salvatori R, Alba M, Kornreich L, Phillip M, Gat-Yablonski G (2006) A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families. J Endocrinol Invest 29:122-130
30. Menezes Oliveira JL, Marques-Santos C, Barreto-Filho JA, Ximenes Filho R, De Oliveira Britto AV, Oliveira Souza AH, Miranda Prado C, Pereira Oliveira CR, Pereira RMC, Ribeiro Vicente TA, Teles Farias C, Aguiar-Oliveira MH, Salvatori R (2006) Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation. J Clin Endocrinol Metab 91:2093-2099
31. Phillips JA III (1995) Inherited defects in growth hormone and synthesis action. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, vol II, 7th edn. McGraw-Hill, New York, pp 3023-3044
32. Kamijo T, Phillips JA (1992) Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab 74:786-789
33. Vnencak-Jones CL, Phillips JA III, Wang DF (1990) Use of polymerase chain reaction in detection of growth hormone gene deletions. J Clin Endocrinol Metab 70:1550-1553
34. Mullis PE, Akinci A, Kanaka C, Eble A, Brook CGD (1992) Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr Res 31:532-534
35. Takahashi I, Takahashi T, Komatsu M, Sato T, Takada G (2002) An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. Clin Genet 61:222-225
36. Hayashi Y, Yamamoto M, Ohmori S, Kamijo T, Ogawa M, Seo H (1999) Inhibition of growth hormone (GH) secretion by a mutant GH-1 gene product in neuroendocrine cells containing secretory granules: An implication for isolated GH deficiency inherited in an autosomal dominant manner. J Clin Endocrinol Metab 84:2134-2139
37. Lee MS, Wajnrajch MP, Kim SS, Plotnick LP, Wang J, Gertner JM (2000) Autosomal dominant growth hormone (GH) deficiency type II: The del 32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 141:883-890
38. Deladoey J, Stocker P, Mullis PE (2001) Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: Clinical and molecular evidence of impaired regulated GH secretion. J Clin Endocrinol Metab 86:3941-3947
39. Binder G, Keller E, Mix M, Massa GG, Stokvis-Brantsma WH, Wit JM, Ranke MB (2001) Isolated GH deficiency with dominant inheritance: New mutations, new insights. J Clin Endocrinol Metab 86:3877-3881
40. Fintini D, Salvatori R, Salemi S, Otten B, Ubertini G, Cambiaso P, Mullis PE (2006) Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. Horm Res 65:76-82
41. 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 47:461-464
42. Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K (1997) Biologically inactive growth hormone caused by an amino acid substitution. J Clin Invest 100:1159-1165
43. Takahashi Y, Chihara K (1999) Short stature by mutant growth hormones. GH IGF Res 9(Suppl B):37-40
44. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chiara K (1996) Brief report: Short stature caused by a mutant growth hormone. N Engl J Med 334:432-436
45. Lewis MD, Horan M, Millar DS, Newsway V, Easter TE, Fryklund L, Gregory JW, Norin M, Del Valle CJ, López-Siguero JP, Cañete R, López-Canti LF, Díaz-Torrado N, Espino R, Ulied A, Scanlon MF, Procter AM, Cooper DN (2004) A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. J Clin Endocrinol Metab 89:1068-1075
46. Rosenfeld RG, Hwa V (2004) Editorial: Toward a molecular basis for idiopathic short stature. J Clin Endocrinol Metab 89:1066-1067
47. Besson A, Salemi S, Deladoëy J, Vuissoz JM, Eblé A, Bidlingmaier M, Bürgi S, Honegger U, Flück C, Mullis PE (2005) Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). J Clin Endocrinol Metab 90:2493-2499
48. Wit JM, Kamp GA, Rikken B (1996) Spontaneous growth and response to growth hormone treatment in children with growth hormone deficiency and idiopathic short stature. Pediatr Res 39:295-302
49. Reiter EO, Price DA, Wilton P, Albertsson-Wikland WK, Ranke MB (2006) Effect of growth hormone (GH) treatment on the near-final height of 1258 patients with idiopathic GH deficiency: Analysis of a large international database (2006). J Clin Endocrinol Metab 91:2047-2054
50. De Luca F, Bernasconi S, Blandino A, Cavallo L, Cisternino M (1995) Auxologic, clinical and neuroradiological findings in infants with early onset growth hormone deficiency. Acta Paediatr 84:561-565
51. Marwaha R, Menon PSN, Jena A, Pant C, Sethi AK, Sapra ML (1992) Hypothalamo-pituitary axis by magnetic resonance imaging in isolated growth hormone deficiency patients born by normal delivery. J Clin Endocrinol Metab 74:654-659
52. Hamilton J, Blaser S, Daneman D (1998) MR Imaging in idiopathic growth hormone deficiency. J Neuroradiol 19:1609-1615
53. Sizonenko PC, Clayton PE, Cohen P, Hintz RL, Tanaka T, Laron Z (2001) Diagnosis and management of growth hormone deficiency in childhood and adolescence. Part 1: Diagnosis of growth hormone deficiency. GH IGF Res 11:137-165
54. Consensus Guidelines for the diagnosis, treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH Research Society (2000). J Clin Endocrinol Metab 85:3990-3993
55. Murray RA, Maheshwari HG, Russell EJ, Baumann G (2000) Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. Am J Neuroradiol 21:685-689
56. Osorio MGF, Marui S, Jorge AAL, Latronico AC, Lo LSS, Leite CC, Estefan V, Mendonca BB, Arnhold IJP (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. J Clin Endocrinol Metab 87:5076-5084
57. Kornreich L, Horev G, Lazar L, Josefsberg Z, Pertzelan A (1997) MR findings in hereditary isolated growth hormone deficiency. Am J Neuroradiol 18:1743-1747
58. Kornreich L, Horev G, Lazar L, Schwarz M, Sulkes J, Pertzelan A (1998) MR findings in growth hormone deficiency: Correlation with severity of hypopituitarism. Am J Neuroradiol 19:1495-1499
59. Nagel BHP, Palmbach M, Petersen D, Ranke MB (1997) Magnetic resonance images of 91 children with different causes of short stature: Pituitary size reflects growth hormone secretion. Eur J Pediatr 156:758-769
60. Bozzola M, Adamsbaum C, Biscaldi I (1996) Role of magnetic resonance imaging in the diagnosis and prognosis of growth hormone deficiency. Clin Endocrinol 45:21-26
61. Maghnie M, Triulzi F, Larizza D (1990) Hypothalamic-pituitary dwarfism: comparison between MR imaging and CT findings. Pediatr Radiol 20:229-235
62. Pellini C, di Natale B, De Angelis R (1990) Growth hormone deficiency in children: Role of magnetic resonance imaging in assessing aetiopathogenesis and prognosis in idiopathic hypopituitarism. Eur J Pediatr 149:536-541