GENETIC FORMS OF GROWTH HORMONE INSUFFICIENCY, PECULIARITIES OF CLINIC AND DIAGNOSTIC

Autor:	M.O. Ryznychuk, I. V. Lastivka, L. Yu. Khlunovska, A. B. Mihalchan
Rok vydání:	2017
Předmět:	medicine.medical_specialty Somatotropic cell Growth factor medicine.medical_treatment Final height Growth hormone receptor Gene mutation Biology Endocrinology Internal medicine medicine Receptor Gene Hormone
Zdroj:	Neonatology, surgery and perinatal medicine. 7:74-76
ISSN:	2413-4260 2226-1230
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ceb545c95d9519b94ad768b85051d014 https://doi.org/10.24061/2413-4260.vii.1.23.2017.13 Zobrazit plný text záznamu