Genetics and molecular biology of the GHRH-GH-IGF-I axis

Minerva Pediatrica

Volumn 51, Issue 11-12, 1999, Pages 375-394

  Bernasconi, S ^a   Bergomi, A ^b   Milioli, S ^b   Tirendi, A ^b   Mastronardi, G ^b   Mariani, S ^b   Predieri, B ^b   Ferrari, M ^b   Geti, M ^b   Livio, L ^b   Rossi, K ^b   Forese, S ^b   Iughetti, L ^b  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b NONE

Author keywords

Dwarfism; Growth hormone (GH); Growth hormone receptor (GHR); Growth hormone releasing hormone (GHRH); Growth hormone releasing hormone receptor (GHRHR); Insulin like growth factor I (IGF I); Insulin like growth factor I receptor (IGF IR)

Indexed keywords

GROWTH HORMONE RELEASING FACTOR; HUMAN GROWTH HORMONE; SOMATOMEDIN C;

ADULT; DWARFISM; FEMALE; GENE EXPRESSION; GENETICS; HUMAN; MALE; POINT MUTATION; REVIEW;

ADULT; DWARFISM; FEMALE; GENE EXPRESSION; GROWTH HORMONE-RELEASING HORMONE; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; POINT MUTATION;

EID: 0033223635     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (110)

1. Bona G, Giordano M, Marchetti C, Chiorboli E, Rapa A, Petri A et al. Alterazioni molecolari del gene del GH in pazienti con GHD. In: Scientific Press, editor. Problematiche attuali sulla diagnosi e terapia delle basse stature. Firenze: Atti del VII Simposio Internazionale di Endocrinologia Pediatrica 1996:41-54.
2. Mullis PE, Argente J, Amselem S, Pfaffle R, van der Burgt I. Genetics and molecular biology in short stature. Acta Paediatr Suppl 1995;411:75-80.
3. Phillips JA. Inherited defects in growth hormone synthesis and action. In: Seriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995 (7th edn.):3023-44.
4. Rona RJ, Tanner JM. Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Child 1977;52(3):197-208.
5. Lacey KA, Parkin JM. Causes of short stature. A community study of children in Newcastle upon Tyne. Lancet 1974;1(7846):42-5.
6. Wajnrajch MP, Gertner JM, Harbison MD,. Chua SC jr, Leibel RL. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 1996;12:88-90.
7. Margioris AN, Brockmann G, Bohler HC jr, Grino M, Vamvakopoulos N, Chrousos GP. Expression and localization of growth hormone-releasing hormone messenger ribonucleic acid in rat placenta: in vitro secretion and regulation of its peptide product. Endocrinology 1990;126:151-8.
8. Bagnato A, Moretti C, Ohnishi J, Frajese G, Catt KJ. Expression of the growth hormone-releasing hormone gene and its peptide product in the rat ovary. Endocrinology 1992;130:1097-102.
9. Berry SA, Srivastava CH, Rubin LR, Phipps WR, Pescovitz OH. Growth hormone-releasing hormone-like messenger ribonucleic acid and immunoreactive peptide are present in human testis and placenta. J Clin Endocrinol Metab 1992;75:281-4.
10. Stephanou A, Knight RA, Lightman SL. Production of a growth hormone-releasing hormone-like peptide and its mRNA by human lymphocytes. Neuroendocrinology 1991;53:628-33.
11. Bosnian FT, Van Assche C, Nieuwenhuyzen Kruseman AC, Jackson S, Lowry PJ. Growth hormone releasing factor (GRF) immunoreactivity in human and rat gastrointestinal tract and pancreas. J Histochem Cytochem 1984;32:1139-44.
12. Shibasaki T, Kiyosawa Y, Masuda A, Nakahara M, Imaki T, Wakabayashi I et al. Distribution of growth hormone-releasing hormone-like immunoreactivity in human tissue extracts. J Clin Endocrinol Metab 1984;59: 263-8.
13. Mayo KE, Godfrey PA, Suhr ST, Kulik DJ, Rahal JO. Growth hormone-releasing hormone: synthesis and signaling Recent Prog Horm Res 1995;50:35-73.
14. Gubler U, Monahan JJ, Lomedico PT, Bhatt RS, Collier KJ, Hoffman BJ et al. Cloning and sequence analysis of cDNA for the precursor of human growth hormone-releasing factor, somatocrinin. Proc Natl Acad Sci USA 1983;80(14):4311-4.
15. Thorner MO, Perryman RL, Cronin MJ, Rogol AD, Draznin M, Johanson A et al. Somatotroph hyperplasia: successful treatment of acromegaly by removal of a pancreatic islet tumor secreting a growth hormone-releasing factor. J Clin Invest 1982;70:965-77.
16. Mayo KE, Cerelli CM, Lebo RV, Bruce KD, Rosenfeld MG, Evans RM. Gene encoding human growth hormone-releasing factor precursor: structure, sequence and chromosomal assignment. Proc Natl Acad Sci USA 1985;82(1):63-7.
17. Kibirige MS, Price DA, Shalet SM, Bailie GR. Plasma growth hormone (GH) responses to growth hormone relesing factor (hp GRF 1-44) in familial GH deficiency. Acta Paediatr Scand 1987;76(1):103-6.
18. Mitrakou A, Hadjidakis G, Raptis S, Bartsocas CS, Souvatzoglou A. Heterogeneity of growth-hormone deficiency (letter). Lancet 1985;1(8425):399-400.
19. Thorner MO, Rogol AD, Blizzard RM, Klingensmith GJ, Najjar J, Misra R et al. Acceleration of growth rate in growth hormone-deficient children treated with human growth hormone-releasing hormone. Pediatr Res 1988;24(2):145-51.
20. Cella SG, Locatelli V, Mennini T, Zanini A, Bendotti C, Forloni GL et al. Deprivation of growth hormone-releasing hormone early in the rat's neonatal life permanently affects somatotropic function. Endocrinology 1990; 127(4):1625-34.
21. Mullis PE, Patel M, Brickell PM, Brooke CJD. Isolated growth hormone deficiency: analysis of the growth hormone (GH)-releasing hormone gene and the GH gene cluster. J Clin Endocrinol Metab 1990;70:187-91.
22. Perez, Jurado LA, Phillips JA III, Francke U. Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single stranded conformational analysis. J Clin Endocrinol Metab 1994;78:622-8.
23. Pescovitz OH, Johnson NB, Berry SA. Ontogeny of growth hormone releasing hormone and insulin-like growth factors-I and -II messeger RNA in rat placenta. Pediatr Res 1991;29(5):510-6.
24. Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO. Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol 1993;7: 77-84.
25. Gaylinn BD, von Kap-Herr C, Golden WL, Thorner MO. Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization. Genomics 1994;19(1):193-5.
26. Wajnrajch MP, Chua SC, Green KD, Leibel RL. Human growth hormone-releasing hormone receptor (GHRHR) maps to a YAC at chromosome 7p15. Mamm Genome 1994;5(9):595.
27. Petersenn S, Rasch AC, Heyens M, Schulte HM. Structure and regulation of the human growth hormone-releasing hormone receptor gene. Mol Endocrinol 1998;12:233-47.
28. Eicher EM, Beamer WG. Inherited ateliotic dwarfism in mice.Characteristics of the mutation, little, on chromosome 6. J Hered 1976;67(2):87-91.
29. Lin SC, Lin CR, Gukovsky I, Lusis AJ, Sawchenko PE, Rosenfeld MG. Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature 1993;364(6434):208-13.
30. Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet 1993;4(3):227-32.
31. Baumann G, Maheshwari H. The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl 1997;423:33-8.
32. Maheshwari HG, Silverman BL, Dupuis J, Baumann G. 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 1998;83(11):4065-74.
33. Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S. 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 1998;83(2):432-6.
34. Ingraham HA, Chen R, Mangalam HJ, Elsholtz HP, Flynn SE, Lin CR et al. A tissue-specific transcription factor containing a homeodomain specified a pituitary phenotype. Cell 1988;55:519-29.
35. Bodner M, Castrill JL, Theill LE, Deerinck T, Ellisman M, Karin M. The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein. Cell 1988;55: 505-18.
36. Herr W, Sturm RA, Clerc RG, Corcoran LM, Baltimore D, Sharp P et al. The POU domain, a large conserved region in the mammalian Pit-1, oct-1, and Caenorhabditis elegans unc-86 gene products. Genes Dev 1988;2: 1513-6.
37. Simmons DM, Voss JW, Ingraham HA, Holloway JM, Broide RS, Rosenfeld MG et al. Pituitary cell phenotypes involve cell-specific pit-1 mRNA translation and synergistic interactions with other classes of transcription factors. Genes Dev 1990;4:695-711.
38. Ingraham HA, Flynn SE, Voss JW, Albert VR, Kapiloff MS, Wilson L et al. The POU-specific domain of pit-1 is essential for sequence-specific, high affinity DNA binding and DNA-dependent pit-1 - pit-1 interactions. Cell 1990;61:1021-33.
39. Li S, Crenshaw EB III, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1. Nature 1990;347:528-33.
40. Cohen LE, Wondisford FE, Radovick S. Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin. Endocrinol Metab Clin North Am 1996;25(3):523-40.
41. Pfaffe R, Kim C, Otten B, Wit JM, Eiholzer U, Heimann G et al. Pit-1: clinical aspects. Horm Res 1996;45(suppl 1):25-8.
42. Pellegrini-Bouiller I, Belicar P, Barlier A, Gunz G, Charvet JP, Jaquet P et al. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1996;81(8):2790-6.
43. Okamoto N, Wada Y, Ida S, Koga R, Ozono K, Chiyo H et al. Monoallelic expression of normal mRNA in the Pit-1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype. Hum Mol Genet 1994;3:1565-8.
44. Pfaffle RW, Di Mattia GE, Parks JS, Brown MR, Wit JM, Jansen M et al. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 1992;257(5073):1118-21.
45. Brown MR, Parks JS, Adess ME, Rich BH, Rosenthal IM, Voss TC et al. Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene. Horm Res 1998;49(2):98-102.
46. Parks JS, Adess ME, Brown MR. Genes regulating hypothalamic and pituitary development. Acta Paediatr Suppl 1997;423:28-32.
47. Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 1998;18(2):147-9.
48. Procter AM, Phillips JA III, Cooper DN. The molecular genetics of growth hormone deficiency. Hum Genet 1998;103(3):255-72.
49. Rosembloom AL, Almonte AS, Brown MR, Fisher DA, Baumbach L, Parks JS. Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene. J Clin Endocrinol Metab 1999;84(1):50-7.
50. Kowarski AA, Schneider J, Ben-Galim E, Weldon VV, Daughaday WH. Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH. J Clin Endocrinol Metab 1978;47(2):461-4.
51. Takahashi Y, Kaji H, Okimura Y, Goji K, Abe H, Chihara K. Brief report: short stature caused by a mutant growth hormone. N Engl J Med 1996;334:432-6.
52. Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J et al. Biologically inactive growth hormone caused by an amino acid substitution. J Clin Invest 1997;100(5):1159-65.
53. Chihara K, Takahashi Y, Kaji H, Goji K, Okimura Y, Abe H. Short stature caused by a natural growth hormone antagonist. Horm Res 1998;49(Suppl 1):41-5.
54. Hondo MM, Vanderschueren-Lodeweyckx M, De Meyts P, Eggermont E. Serum growth hormone levels measured by radioimmunoassay and radioreceptor assay: a useful diagnostic tool in children with growth disorders? J Clin Endocrinol Metab 1990;70(5):1445-51.
55. Phillips JA III, Cogan JD. Genetic basic of endocrine disease 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 1994;78(1): 11-6.
56. Illig R, Prader A, Ferrandez A, Zachmann M. Hereditary prenatal growth hormone deficiency with increased tendency to growth hormone antibody formation ('a-type' isolated growth hormone deficiency). Acta Paediatr Scand Suppl 1971;60:607.
57. Illig R. Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). J Clin Endocrinol Metab 1970;31(6):679-88.
58. Kamijo T, Phillips JA. Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J Clin Endocrinol Metab 1992;74:786-9.
59. Mullis PE, Akinci A, Kanaka CH, Eble A, Brook CGD. Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr Res 1992;31: 532-4.
60. Wagner JK, Eble A, Hindmarsh PC, Mullis PE. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43(1):105-10.
61. Cogan JD, Phillips JA III, Sakati N, Frisch H, Schober E, Milner RD. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab 1993;76(5):1224-8.
62. Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EM et al. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum Mol Genet 1997;6(6):909-12.
63. Gertner JM, Wajnrajch MP, Leibel RL. Genetic defects in the control of growth hormone secretion. Horm Res 1998;49(Suppl 1):9-14.
64. Conley ME, Burks AW, Herrod HG, Puck JM. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J Pediatr 1991;119(3):392-7.
65. Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M et al. Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2). Am J Med Genet 1992;42(5):660-4.
66. Rosenbloom AL, Rosenfeld RG, Guevara-Aguirre J. Growth hormone insensitivity. Pediatr Clin North Am 1997;44(2):423-42.
67. Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO et al. Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J Clin Endocrinol Metab 1998;83(12):4481-9.
68. Attie KM, Carlsson LM, Rudle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idiopatic short stature. The National Cooperative Growth Study. J Pediatr 1995;127(2):244-50.
69. Laron Z, Blum W, Chatelain P, Ranke M, Rosenfeld R, Savage M et al. Classification of growth hormone insensitivity syndrome. J Pediatr 1993;122(2):241.
70. Carlsson LM. Partial growth hormone insensitivity in childhood. Baillieres Clin Endocrinol Metab 1996;10(3): 389-400.
71. Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994;15(3):369-90.
72. Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentration of growth hormone-a new inborn error of metabolism? Isr J Med Sci 1966;2:152-5.
73. Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R et al. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA 1989;86(20):8083-7.
74. Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC et al. Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 1989;321(15):989-95.
75. Ayling RM, Ross R, Towner P, Von-Laue S, Finidori J, Moutoussamy S et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16(1):13-4.
76. Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H et al. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 1998;83(2):531-7.
77. Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 1996; 81(5):1686-90.
78. Jaruratanasirikul S, Chaichanwatanakul K. Growth hormone insensitivity syndrome (Laron dwarfism). Horm Res 1998;49(Suppl 1):47-8.
79. Woods KA, Dastot F, Preece MA, Clark AJ, Postel-Vinay MC, Chatelain PG et al. Phenotype: genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 1997;82(11):3529-35.
80. Carlsson LM, Attie KM, Compton PG, Vitangcol RV, Merimee TJ. Reduced concentration of serum growth hormone-binding protein in children with idiopatic short stature. J Clin Endocrinol Metab 1994;78(6): 1325-30.
81. Goddard AD, Dowel P, Chernausek S, Geffner M, Gertner J, Hintz R et al. Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. J Pediatr 1997; 131(1Pt2):S51-5.
82. Goddaard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N et al. Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995;333(17):1093-8.
83. Sanchez JE, Perera E, Baumbach L, Cleveland WW. Growth hormone receptor mutations in children with idiopathic short stature. J Clin Endocrinol Metab 1998;83(11):4079-83.
84. D'Ercole AJ. Insulin-like growth factors and their receptors in growth. Endocrinol Metab Clin North Am 1996;25(3):573-90.
85. Baker J, Liu JP, Robertson EJ, Efstratiadis A. Role of insulin-like growth factors in embryonic and postnatal growth. Cell 1993;75(1):73-82.
86. Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993;75(1):59-72.
87. Powell-Braxton L, Hollingshead P, Warburton C, Dowd M, Pitts-Meek S, Dalton D et al. IGF-I is required for normal embryonic growth in mice. Genes Dev 1993; 7(12B):2609-17.
88. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335(18): 1363-7.
89. Woods KA, Camacho-Hubner C, Barter D, Clark AJ, Savage MO. Insulin-like growth factor I gene deletion causing intrauterine growth retardation and severe short stature. Acta Paediatr Suppl 1997;423:39-45.
90. Beck KD, Powell-Braxton L, Widmer HR, Valverde J, Hefti F. Igf1 gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumin-containing neurons. Neuron 1995;14(4):717-30.
91. Werner H, Woloschak M, Stannard B, Shen-Orr Z, Roberts CT jr, LeRoith D. Insulin-like growth factor I receptor: molecular biology, heterogeneity and regulation. In: LeRoith editor. Insulin-Like Growth Factors. Boca Raton. FL, CRC Press. 1991:17-47.
92. Abbot AM, Bueno R, Pedrini MT, Murray JM, Smith RJ. Insulin-like growth factor I receptor gene structure. J Biol Chem 1992;267(15):10759-63.
93. LeRoith D, Werner H, Beitner-Johson D, Roberts CT jr. Molecular and cellular aspects of the insulin-like growth factor I receptor. Endocr Rev 1995;16(2):143-63.
94. LeRoith D. Insulin-like growth factor receptors and binding proteins. Baillieres Clin Endocrinol Metab 1996;10(1):49-73.
95. Francke U, Yang-Feng TL, Brissenden JE, Ullrich A. Chromosomal mapping of genes involved in growth control. Cold Spring Harb Symp Quant Biol 1986;51(Pt 2):855-66.
96. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chretien M Butler MG. An infant with deletion of the distal long arm of chromosome 15 (q26.1qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 1991;38(1):74-9.
97. Clark RD. Del(15)(q22-q24) syndrome with Potter sequence. Am J Med Genet 1984;19(4):703-5.
98. Formiga LD, Poenaru L, Couronne F, Flori F, Eibel JL, Deminatti MM et al. Interstitial deletion of chromosome 15: two cases. Hum Genet 1988;80(4):401-4.
99. Fryns JP, de Muelenaere A, van den Berghe H. Interstitial deletion of the long arm of chromosome 15. Ann Genet 1982;25(1):59-60.
100. Kristofferson U, Heim S, Mandahl N, Sundkvisl L, Szelest J, Hagerstrand I. Monosomy and trisomy of 15q24qter in a family with a traslocation t(6;15) (p25;q24). Clin Genet 1987;32 (3):169-71.
101. Pasquali F, Zuffardi O, Severi F, Colombo A, Burgio GR. Tandem traslocation 15-13. Ann Genet 1973;16(1):47-50.
102. Siebler T, Lopaczynski W, Terry CL, Casella SJ. Munson P, De Leon DD et al. Insulin-like growth factor I receptor expression and function in fibroblasts from two patients with deletion of the distal long arm of chromosome 15. J Clin Endocrinol Metab 1995;80(12):3447-57.
103. Bierich JR, Moeller H, Ranke MB, Rosenfeld RG. Pseudohypopituitary dwarfism due to resistance to somatomedin: a new syndrome. Eur J Pediatr 1984; 142(3):186-8.
104. Heath-Monnig E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH. Measurement of insulin-like growth factor I (IGF-I) responsiveness of fibroblasts of children with short stature: identification ot a patient with IGF-I resistance. J Clin Endocrinol Metab 1987;64(3):501-7.
105. Lanes R, Plotnick LP, Spencer EM, Daughaday WH, Kowarski AA. Dwarfism associated with normal serum growth hormone and increased biossayable, receptorassayable, and immunoassayable somatomedin. J Clin Endocrinol Metab 1980;50(3):485-8.
106. Merimea TJ, Hewlett BS, Wood W, Bowcock AM, Cavalli-Sforza LL. The growth hormone receptor gene in the African pygmy. Trans Assoc Am Physicians 1989;102:163-9.
107. Merimee TJ, Baumann G, Daughaday W. Growth hormone-binding protein: II. Studies in pygmies and normal statured subjects. J Clin Endocrinol Metab 1990; 71(5):1183-8.
108. Geffner ME, Bailey RC, Bersch N, Very JC, Golde DW. Insulin-like growth factor-I unresponsiveness in an Efe Pygmy. Biochem Biophys Res Commun 1993; 193(3):1216-23.
109. Geffner ME, Bersch N, Bailey RC, Golde DW. Insulin-like growth factor I resistance in immortalized T cell lines from African Efe Pygmies. J Clin Endocrinol Metab 1995;80(12):3732-8.
110. Hattori Y, Vera JC, Rivas CI, Bersch N, Bailey RC, Geffner ME et al. Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells. J Clin Endocrinol Metab 1996;81(6):2257-63.