Key result
Genetic forms of growth hormone insufficiency in children present with variable clinical symptoms, requiring molecular-genetic diagnosis to identify specific gene defects for appropriate therapy.
Understanding the molecular-genetic defects in the growth hormone-IGF-1 axis is important for improving diagnosis, choosing adequate therapy, and predicting final height in children with growth hormone insufficiency.
May support genetic testing for tailored therapy in pediatric GH insufficiency; leaves open validation in larger prospective cohorts.
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.
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Lastivka et al. (2017) conducted a review in Genetic forms of growth hormone insufficiency. Genetic forms of growth hormone insufficiency in children present with variable clinical symptoms, requiring molecular-genetic diagnosis to identify specific gene defects for appropriate therapy.
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