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- W2626383556 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." @default.
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- W2626383556 date "2017-02-23" @default.
- W2626383556 modified "2023-09-25" @default.
- W2626383556 title "GENETIC FORMS OF GROWTH HORMONE INSUFFICIENCY, PECULIARITIES OF CLINIC AND DIAGNOSTIC" @default.
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- W2626383556 doi "https://doi.org/10.24061/2413-4260.vii.1.23.2017.13" @default.
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