1. Ranke M.B. The KIGS aetiology classification system. In: Growth hormone therapy in KIGS - 10 etars' experience. Ed. M.B. Ranke, P. Wilton. Heideberg; Leipzig: Barth, 1999; 389-401
2. Cogan J.D., Phillips 3rd J.A.. Growth disorders caused by genetic defects in the growth hormone pathway. AdvPediatr. 1998;45:337-361
3. Wagner J.K., ЕЫё A., Hindmarsh P.C., Mullis P.E. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res. 1998;43(1):105-10
4. Cogan J.D., Phillips 3rd J.A., Sakati N., et al. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab. 1993;76(5):1224-1228
5. Ryther R.C.C., McGuinness L.M., Phillips 3rd J.A., et al. Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II. Hum Genet. 2003;113(2):140-148
6. Fofanova O.V., Evgrafov O.V., Polyakov A.V., et al. A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J Clin Endocrinol Metab. 2003;88(2):820-826
7. Petkovic V., Lochmatter D., Turton J., et al. Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. J Clin Endocrinol Metab. 2007;92(11):4427-4435
8. Wajnrajch M.P., Gertner J.M., Harbison M.D., et al. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 1996;12(1):88-90
9. FrohmanL.A., Kineman R.D. Growth hormone-releasing hormone and pituitary somatotrope proliferation. Minerva Endocrinol. 2002;27(4):277-285
10. Xatzipsalti M., Voutetakis A., Stamoyannou L., et al. Congenital hypopituitarism: various genes, various phenotypes. Horm Metab Res. 2019;51(2):81-90
11. Cohen L.E., Wondisford F.E., Radovick S. Role of Pit-1 in the gene expression of growth hormone, prolactin, and thyrotropin. Endocrinol Metab Clin North Am. 1996;25(3):523-540
12. Гаврилова А.Е., Нагаева Е.В., Ширяева Т.Ю., Тюльпаков А.Н, Петеркова В.А. Новая гетерозиготная мутация гена POU1F1, ассоциированная с множественным дефицитом гормонов аденогипофиза. Проблемы эндокринологии. 2017;63(3):166-169
13. Vieira T.C., Boldarine V.T., Abucham J. Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. Arq Bras Endocrinol Metabol. 2007;51(7):1097-1103
14. Agarwal G., Bhatia V., Cook S., Thomas P.Q.J. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homoz ygous for a novel PROP1 deletion. Clin Endocrinol Metab. 2000;85(12):4556-4561
15. Bottner A., Keller E., Kratzsch J., et al. PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab. 2004;89(10):5256-5265
16. Riepe FG, Partsch CJ, Blankenstein O, et al. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab. 2001;86:4353-4357
17. Voutetakis A, Argyropoulou M, Sertedaki A, et al. Pituitary magnetic resonance imaging in 15 patients with PROP1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab. 2004;89:2200-2206
18. Mendonca BB, Osorio MG, Latronico AC, et al. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301, G302 in the PROP1 gene. J Clin Endocrinol Metab. 1999;84:942-945
19. do Amaral L.L.F., Ferreira R.M., Ferreira N.P.F.D., et al. Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement. AJNR Am J Neuroradiol. 2007;28(7):1369-1370
20. Ohta K., Nobukuni Y., Mitsubuchi H., et al. Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Biochem Biophys Res Commun. 1992;189(2):851-855
21. Fofanova O.V., Takamura N., Kinoshita E., et al. Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. Am J Med Genet. 1998;77(5):360-5
22. Wu W., Cogan J.D., Pfaffle R.W., Dasen J.S., et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 1998;18(2):147-149
23. Birla S., Khadgawat R., Jyotsna V.P., et al. Identification of novel PROP1 and POU1F1 mutations in patients with combined pituitary hormone deficiency. Horm Metab Res. 2016 Dec;48(12):822-827
24. Penta L., Bizzarri C., Panichi M., et al. Identification of a novel PROP1 mutation in a patient with combined pituitary hormone deficiency and enlarged pituitary. Int J Mol Sci. 2019;20(8):1875
25. McNay D.E.G., Turton J.P., Kelberman D., et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab. 2007;92(2):691-697
26. Nolen L.D., Amor D., Haywood A., et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A. 2006;140(16):1711-1718
27. Tajima T., Ohtake A., Hoshino M., et al. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 2009;94(1):314-319
28. Diaczok D., Romero C., Zunich J., et al. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008;93(11):4351-4359
29. Shimada A., Takagi M., Nagashima Y., et al. A novel mutation in OTX2 causes combined pituitary hormone deficiency, bilateral microphthalmia, and agenesis of the left internal carotid artery. Horm Res Paediatr. 2016;86(1):62-69