1. Underwood LE and Van Wyk JJ. 1991 Normal and aberrant growth, in Williams Textbook of Endocrinology (Foster DW, Wilson JP, Eds), 8th Ed. Philadelphia, WB Saunders; pp1079-1138.
2. Rosenfeld RG. 1996 Disorders of growth hormone and insulin-like growth factor secretion and action, in Pediatric Endocrinology (Sperling MA, Ed) Saunders, Philadelphia, PA; pp 117-170.
3. Parks JS, Brown AR. 1999 Transcription factors regulating pituitary development. Growth Horm IGF Res 9:2-11.
4. Baumann G, Stolar MW, Amburn K et al. 1986 A specific GH binding protein in human plasma: initial characterisation. J Clin Endocrinol Metab 62:134-141
5. Godowski PJ, Leung DW, Meacham LR et al. 1989 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 86:8083-8087
6. Jones JJ, Clemmons DR 1995 Insulin-like growth factors and their binding proteins. Endocrine Reviews 16:3-34.
7. Berelowitz M, Szabo M, Frohman LA et al. 1982 Somatomedin-C mediates growth hormone negative feedback by effects on both the hypothalamus and the pituitary. Science 212:1279-1281.
8. Baxter RC. 1997 Editorial The binding protein' binding protein: clinical application of acid labile subunit (ALS) measurement. J Clin Endocrinol Metab 82: 3941-3943.
9. Cowell CT. 2001 Short stature. In Textbook of Paediatric Endocrinology (Brook CG, Eds), 3th Ed. London, WB Saunders; pp 136-172.
10. Grossman A, Savage MO, Wass JAH, Lytras N, Sueiras-Diaz J, Coy DH, Besser GM. 1983 Growth hormone-releasing factor in growth hormone deficiency: demonstration of a hypothalamic defect in growth hormone release. Lancet 2:137-138.
11. Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP. 1999 Heritable disorders of pituitary development. J Clin Endocrinol Metab 84:4362-4370
12. Phillips JA III, Hjelle B, Seeburg PH, Zachmann M. 1981 Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci USA 78:6372-6375.
13. Wu W, Cogan JD, Pfaffle RW et al. 1998 Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genetics 18:147-149.
14. Pfäfle RW, Di Mattia GE, Parks JS et al 1992 Mutation of the POU-specific domain of Pit-1 responsible for combined pituitary deficiency. Science 257:1115-1118
15. Pfäfle RW, Blakenstein O, Wüller S, Kentrup H. 1999 Combined pituitary hormone deficiency: Role of Pit-1 and Prop-1. Acta Paediatr (Suppl 433) 33-41
16. Choo-Kang LR, Sun CCJ, Counts DR. 1996 Cholestasis and hypoglycemia: Manifestations of congenital anterior hypopituitarism. J Clin Endocrinol Metab 81:2786-2789
17. Blizzard RM, Alberts MA. 1956 Hypopituitarism, hypoadrenalism, and hypogonadism in the newborn infant. J Pediatr 48:782-792
18. Laron Z, Pertzelan A, Mannheimer S. 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone: anew inborn error of metabolism? Isr J Med Sci. 2:152-155
19. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Fielder PJ. 1990 The little women of Loja: growth hormone receptor deficiency in an inbred population in southern Ecuador. N Engl J Med 323:1367-1374.
20. Woods KA, Savage MO. 1996 Laron Syndrome: typical and atypical forms. In: Ross RJM, Savage MO, eds. Growth hormone resistance. London, Balliere-Tindall; pp371-388.
21. Cheng TC, Beamer WG, Phillips III JA, Bartke A, Mallonee RL, Dowling C. 1983 Etiology of growth hormone deficiency in Little, Ames and Snell dwarf mice. Endocrinology 113:1669-1678.
22. Netchine I, Sobrier ML, Krude H et al 2000 Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 25;182-186
23. Schmitt S, Biason-Lauber A, Betts D, Schoenle EJ. 2000 Genomic structure, chromosomal localization and expression pattern of the human LIM-homobox3 (LHX 3) gene. Biochem Biophys Res Comm 274:49-56.
24. Dattani M, Martinez-Barbera JP, Thomas PQ et al 1998 Mutations in the homeobox gene Hesx1/HESX1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19:125-133
25. Rivarola MA, Phillips JA III, Migeon CJ, Heinrich JJ, Hjelle BL. 1984 Phenotypic heterogeneity in familial isolated growth hormone deficiency type 1-A. J Clin Endocrinol Metab 59:34-40.
26. Mullis PE, Akinci A, Kanaka , Eble A, Brook CG. 1992 Prevalence of human growth hormone-1gene deletions among patients with isolated growth hormone deficiency from different populations. Pedatr Res 31:532-534
27. Goossens M, Brauner R, Czernichow P, Duquesnoy P, Rappapport R. 1986 Isolated growth hormone deficiency type 1A associated with double deletion in the human GH gene cluster. J Clin Endocrinol Metab 62:712-716
28. Phillips JA III, Cogan J. 1994 Genetic basis of endocrine disease. VI Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab. 78:11-16
29. Takahashi Y, Kaji H, Okimura Y et al. 1996 Short stature caused by a mutant growth hormone N Engl J Med 334:432-436
30. Binder G, Benz MR, Elmlinger M et al. 1999 Reduced human growth hormone (hGH) bioactivity without a defect of the GH-1 gene in three patients with rhGH responsive growth failure. Clin Endocrinol 51:89-95
31. Wajnrach 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
32. Baumman G, Maheshwari H. 1997 The dwarfs of Sindh: severe growth hormone deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr 423: (Suppl) 33-38
33. Salvatori R, Hayashida CY, Aguiar-Oliveira MH, et al. 1999 Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor. J Clin Endocrinol Metab 84:917-923.
34. Vanelli S, Avataneo T, Benso I et al. 1993 Magnetic resonance and the diagnosis of short stature of hypothalamic-hypophyseal origin. Acta Paediatr Scand Suppl 82:155-161.
35. Hoyt WF, Kaplan SL, Grumbach MM. 1985 Hypothalamic-pituitary function in children with optic nerve hypoplasia. Am J Dis Child 1:893-894
36. Dattani M, Brickman JM, McNay D et al 2000 Mutations/polymorphisms of HESX1 associated with septo-optic dysplasia in man Growth Horm IGF Res 10:149
37. Preece MA, Kearney PJ, Marshall WC. 1977 Growth-hormone deficiency in congenital rubella. Lancet 2:842-844.
38. Fujita K, Matsuo N, Mori O et al. 1992 The association of hypopituitarism and small pituitary, invisible pituitary stalk, tye 1 Arnold-Chiari malformation, and syringomyelia in seven patients born in breech position: a further proof of birth injury theory on the pathogenesis of idiopathic hypopituitarism. Eur J Pediatr 151:266-270
39. Thomsett MJ, Conte FA, Kaplan SL, Grumbach MD 1980 Endocrine and neurologic outcome in childhood craniopharyngioma: review of effect of treatment in 42 patients J Pediatr 97:728-735
40. Bucher H, Zapf J, Torresani T, Prader A, Froesch R, Illig R. 1983 Insulin-like growth factors I and II, prolactin, and insulin in 19 growth hormone defricient children with excessive, normal , or decreased longitudinal growth after operation for craniopharyngioma. N Engl j Med 309:1142-1146
41. Sorva R 1988 Children with craniopharyngioma: early growth failure and rapid postoperative weight gain. Acta Paediatr Scan, Suppl 77:587-592
42. Sklar C, Grumbach MM, Kaplan Sl, Conte FA. 1981 Hormonal and metabolic abnormalities associated with central nervous system germinoma in children and adolescents and the effect of therapy: report of 10 patients. J Clin Endocrinol Metab 52:9-16.
43. Bettendorf M, Fehn M, Grulich-Henn J et al. 1999 Lymphocytic hypophysitis with central diabetes insipidus and consequent panhypopituitarism preceding a multifocal, intracranial germinoma in a prepubertal girl. Eur J Pediatr 158:288-292.
44. Brauner R, Malandry F, Rappaport R et al. 1990 Growth and endocrine disorders in optic glioma. Eur J Pediatr 149:825-828
45. Darendelier F, Livesey EA, Hindmarsh PC, Brook CG. 1990 Growth and growth hormone secretion in children following treatment of brain tumours with radiotherapy. Acta Paediatr Scand Suppl 79:950-956
46. Braunstein GD, Kohler PO. 1981 Endocrine manifestations of histiocytosis. Am J Ped Hemat Oncol 3:67-75
47. Rappaport R, Brauner G. 1989 Growth and endocrine disorders secondary to cranial irradiation. Pediatr Res 25:561-567.
48. Shalet SM, Crowne EC, Didi MA, Ogilvy-Stuart AL, Wallace WH. 1992 Irradiation induced growth failure. Ballières Clin Endocrinol Metab 6:513-526
49. Ryalls M, Spoudeas HA, Hindmarsh PC et al. 1993 Short-term endocrine consequences of total body irradiation and bone marrow transplantation in children treated for leukaemia. J Endocrinol 136:331-338.
50. Albertsson-Wikland K, Rosberg S. 1988 Analysis of 24-hour growth hormone profiles in children. I. Relation to growth. J Clin Endocrinol Metab 67:493-500.
51. Kristrom B, Jansson C, Rosberg S, Albertsson-Wikland K. 1997 Growth response to growth hormone (GH) treatment relates to serum insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 in short children with various GH secretory capacities. J Clin Endocrinol Metab 82:2889-2898
52. Hindmarsh PC, Swift PGF. 1995 An assessment of growth hormone provocation tests. Arch Dis Child 72:362-368
53. Marin G, Domene HM, Barnes KM et al. 1994 The effects of estrogen priming and puberty on the growth hormone response to standardised treadmill exercise and arginine-insulin in normal girls and boys. J Clin Endocrinol Metab 79:537-541
54. Monson JP, Hindmarsh P. 2000 The assessment of growth hormone deficiency in children and adults with particular reference to the transitional period. Clin Endocrinol 53:545-547.
55. Aguiar-Oliveira MH, Gill MS, Barreto de A E, et al. 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.
56. Smith WJ, Nam TJ, Underwood LE, Busby WH, Celnicker A, Clemmons DR. 1993 Use of insulin-like growth factor-binding protein-2 (IGFBP-2), IGFBP-3 and IGF-I for assessing growth hormone status in short children. J Clin Endcorinol Metab 77:1294-1299.
57. Consensus Guidelines for the diagnosis and 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
58. Tanaka T, Cohen P, Clayton PE, Laron Z, Hintz RL, Sizonenko PC. 2002 Diagnosis and management of growth hormone deficiency in childhood and adolescence-Part 2: growth hormone treatment in growth hormone deficient children. GH & IGF Res 12:323-341
59. Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. 1995 Guidelines for the use of growth hormone in children with short stature: a report by the Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. J Pediatr 127:857-867
60. Saggese G, Ranke MB, Saenger P, Rosenfeld RG, Tanaka T, Chaussain JL, Savage MO. 1998 Diagnosis and treatment of growth hormone deficiency in children and adolescents; towards a consensus. Horm Res. 50:320-340
61. Clayton PE, Cowell CT. 2000 Safety issues in children and adolescents during growth hormone therapy-a review. GH &IGF Res 10:306-317
62. Malozowski S, Tanner LA, Wysowski D, Fleming GA, Stadel BV. 1995 Benign intracranial hypertension in children with growth hormone deficiency treated with growth hormone. J Pediatr 126:996-999
63. Koller EA, Stadel BV, Malozowski SN. 1997 Papilledema in 15 renally compromised patients treated with growth hormone. Ped Nephrol 11:451-454
64. Fisher DA, Job JC, Preece MA, Underwood LE. 1988 Leukemia in patients treated with growth hormone. Lancet 1159-1160
65. Wilton P. 1994 Adverse events during growth hormone treatment: 5 years experience in the Kabi International Growth Study. In: Ranke MB, GunnarssonR, eds Progress in Growth Hormone Therapy-5 years of KIGS. J and J Verlag Mannheim, pp297-307
66. Rappapport EB, Fife D. 1985 Slipped capital femoral epiphysis occurring during growth hormone therapy. Report of a case. J Bone Joint Surg [Br} 56:703-705
67. Blethen SL, Rundle AC. 1996 Slipped capital femoral epiphysis in children treated with growth hormone. A summary of the National Cooperative Growth Study Experience. Horm Res46:113-116
68. Weise M, James D, Leitner CH, Hartmann KK, Bohles HJ, Attanasio A. 1993 Glucose metabolism in Ullrich Turner Syndorme: long-term effects of therapy with human growth hormone. German Lilly UTS Study Group. Horm Res 39:36-41
69. Botero D, Danon M, Brown RS. 1993 Symptomatic non-insulin dependent diabetes mellitus during therapy with recombinant human growth hormone[see comments] J Pediatr 123:590-592
70. Cutfield WS, Wilton P, Bennmarker H et al. 2000 Incidence of diabetes mellitus and impaired glucose tolerance in children and adolescents receiving growth hormone therapy. Lancet 355:610-613
71. Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJL, Camacho-Hübner C. 2001 Growth hormone insensitivity: Pathophysiology, diagnosis, clinical variation and future perspectives. Horm Res 55(Suppl 2):32-35.
72. Rosenbloom AL. 1999 IGF-I treatment of growth hormone insensitivity syndrome. In Rosenfeld RG, Roberts CT (eds); The IGF system. Totowa, Humana Press. pp739-770
73. Woods KA, Dastoto F, Preece M et al 1997 Phenotype: Genotype relationships in growth hormone insensitivity syndrome. J Clin Endocrinol Metab 82:3529-3535
74. Burren CP, Woods KA, Rose SJ et al. 2001 Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome. Horm Res 55:125-130.
75. Kofoed EM, Hwa V, Little B et al. 2003 Growth hormone insensitivity associated with a STAT5b mutation. N. Engl. J. Med. 349: 1110–1112.
76. Ranke MB, Savage MO, Chatelain PG et al 1999 Long-term treatment of growth hormone insensitivity syndrome with IGF-I. Horm Res 51:128-134.
77. Rosenfeld RG, Rosenbloom Al, Guevara-Aguirre J. 1994 Growth hormone insensitivity due to primary GH receptor deficiency. Endocr Rev 15:369-390.
78. Backeljaw PE, Underwood LE. 1996 Prolonged treatment with recombinant insulin-like growth factor-I in children with growth hormone insensitivity syndrome- a clinical research center study. GHIS Collaborative Group. J Clin Endocrinol Metab 81:3312-3317.
79. Camacho-Hübner C, Woods KA, Miraki-Moud F et al. 1999 Effects of recombinant human insulin-like growth factor (IGF)-I therapy in a patient with a partial IGF-I gene deletion. J Clin Endocrinol Metab 84:1611-1616.
80. Camacho-Hübner C, Rose S, Preece M et al. 2006 Recombinant human insulin-like growth factor (IGF)-I/IGF binding protein-3 complex administered to patients with growth hormone insensitivity syndrome. J. Clin. Endocrinol. Metab. 91:1246-1253