Keywords
growth hormone deficiency, syndrome of biologically inactive growth hormone, Laron syndrome, children, growth hormone
How to Cite
Sprinchuk, N. (2016). Differential diagnosis of certain forms of short stature: the isolated growth hormone deficiency, syndrome of biologically inactive growth hormone, receptor insensitivity to growth hormone (clinicaldiagnostic and molecular-genetic features). Endokrynologia, 21(1), 75-82. Retrieved from https://endokrynologia.com.ua/index.php/journal/article/view/120
Abstract
The author presents the modern methods of laboratory and molecular genetic diagnosis of short stature in children, due to an absolute or relative deficiency of growth hormone, shows approaches to the differential diagnosis of its forms, describes the phenotype of patients with syndrome of biologically inactive growth hormone. Recommendations are given for the treatment of short stature in children depending on its form.
References
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2. Hinney A., Hoch A., Geller F., Schäfer H., Siegfried W., Goldschmidt H., Remschmidt H, Hebebrand J. Ghrelin gene: identification of missense variants and a frameshift mutation in exstremely obese children and adolescents and healthy normal weight students // J. Clin. Endocrinol. Metab. — 2002. — Vol. 87, № 6. — P. 271-276.
3. Фофанова О.В. Клинический полиморфизм и молекулярно-генетическая гетерогенность соматотропной недостаточности у детей: автореф. дис… д-ра мед. наук. — М., 2000. — 41 с. (Fofanova O.V. Clinical polymorphism and molecular genetic heterogeneity of somatotropic deficiency in children: avtoref. dis. …d-ra med. nauk. — M., 2000. — 41 p.).
4. Layman L.C. Human gene mutations causing infertility // J. Med. Genet. — 2002. — Vol. 39. — P. 153-161.
5. Tanaka T. Global situation of growth hormone treatment in growth hormone-deficient children // Horm. Res. — 1999. — Vol. 51, № 3. — P. 75-80.
6. Camacho-H C., Storr A., Miraki-Moud F. Recombinant human insulin-like growth factor (IGF‑1) / IGF-binding protein‑3 complex administered to patients with growth hormone insensitivity syndrom // Horm. Res. — 2003. — Vol. 60, № 2. — P. 15-16.
7. Петеркова В.А., Фофанова О.В., Тюльпаков А.Н., Семичева Т.В., Безлепкина О.Б., Волеводз Н.Н., Касаткина Э.П., Самсонова Л.Н., Карманов М.Е., Духарева О.В., Петряйкина
Е.Е. Диагностика и лечение соматотропной недостаточности у детей. Национальный консенсус. — М.: АСК Юнион Печатные работы, 2005. — 50 c.
8. Bozzola E., Lauriola S., Messina M.F., Bona G., Tinelli C., Tatò L. Effect of different growth hormone dosages on the growth velocity in children born small for gestational age // Horm. Res. — 2004. — Vol. 61, № 2. — P. 98-102.
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