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Abstract
Syndrome of biologically inactive growth hormone (BIGH) or Kowarsky syndrome is a genetically determined disease, clinically manifested from early childhood as an isolated somatotropic insufficiency, data on the prevalence and incidence of which are almost absent. The phenotype of the patients with BIGH syndrome is described, they have a proportional body structure with a convex forehead and a saddle-shaped nose. Laboratory signs BIGH syndrome are a normal level of growth hormone (GH) against the background of pharmacological stimulation tests, a low concentration of insulin-like growth factor-1 (IGF-1), a positive 4-day test for sensitivity to GH. Children with low body weight and concomitant somatic pathology are a contingent of exclusion from the diagnosis of Kowarsky syndrome. Intrauterine growth retardation is not characteristic of patients with this syndrome. For the final genetic confirmation of BIGH syndrome, sequencing of the growth hormone gene can be the most informative. Patients with BIGH syndrome were prescribed GH preparations at a dose of 0.033 mg/kg/day; with insufficient growth rate, the dose of GH drugs was titrated once every 3 months to 0.05 mg/kg/day. Adequacy of the GR dose was assessed every 3 months by growth rate and IGF-1 level. The reserve adaptive mechanisms of the pituitary-thyroid system and the pituitary-adrenal glands in patients with BNHR syndrome have an adequate compensatory reaction to long-term treatment with recombinant GH drugs. In patients with BNHR syndrome and early puberty, who had an unsatisfactory predicted final growth, gonadotropin-releasing hormone analogues along with GH preparations, were used to delay puberty, which significantly increased final growth. Children with short stature are recommended to conduct research on the level of 25(OH)D and, in the event of its deficiency, to use vitamin D preparations. An algorithm for the differential diagnosis and treatment of patients with different forms of short stature is presented.
References
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