Abstract
The article considers genetic forms of growth hormone insufficiency in children. Analysis of genes, defects of which can lead to severe growth retardation due to somatotropic insufficiency or syndromal disorders, is important not only to improve the diagnosis, but also for choosing of adequate therapy and prediction of final height. Choice of analyzed gene is determined by a combination of clinical data and features of hormone secretion.Are discussed primary IGF-1 deficiency (disturbance of synthesis and secretion of growth hormone (neurosecretory dysfunction), biologically inactive growth hormone (GH1 gene mutation), and partial insensitivity to growth hormone as a result of its receptor defects (GHR gene mutations).The article details the principles of diagnostic search in the genetic forms of growth hormone insufficiency, was analyzed molecular-genetic defects in genes of the growth axis system: growth hormone - insulin-like growth factor 1.
Highlights
Are discussed primary IGF-1 deficiency (disturbance of synthesis and secretion of growth hormone, biologically inactive growth hormone (GH1 gene mutation), and partial insensitivity to growth hormone as a result of its receptor defects (GHR gene mutations)
defects of which can lead to severe growth retardation
Choice of analyzed gene is determined by a combination of clinical data and features
Summary
ГЕНЕТИЧНІ ФОРМИ НЕДОСТАТНОСТІ СОМАТОТРОПНОГО ГОРМОНУ, ОСОБЛИВОСТІ КЛІНІКИ ТА ДІАГНОСТИКИ У статті розглянуті генетичні форми недостатності гормону росту в дітей. У статті дані принципи діагностичного пошуку при генетичних формах недостатності ГР, проаналізовані молекулярно-генетичні дефекти генів системи ростової вісі гормон росту - інсуліноподібний ростовий фактор 1. Ключові слова: генетичні форми недостатності гормону росту; молекулярно-генетична діагностика; гормон росту; інсуліноподібний фактор росту 1.
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