Sprynchuk N. Sprynchuk N. A. Biologically inactive growth hormone syndrome: clinic, peculiarities, diagnosis and treatment (long-term observation)

Реферат (англ.) Object of study: Short stature in children and adolescents. Purpose: comprehensive clinical and laboratory determination of the patterns of the course and features of the pathogenesis of biologically inactive growth hormone (GH) syndrome in children and adolescents, development of scientifically reasonable criteria for its diagnosis and optimization of treatment of this category of patients based on the study of clinical and hormonal dynamics. Research methods and equipment: general clinical, anthropometric, biochemical, immunoenzymatic, radioisotope, genetic spectrometric, instrumental, radiological and statistical. Harpenten stadiometr , Electronic Scales ”SECA”, Simens Analyzer, Biosystems BTS-330 Photometer. Theoretical and practical results: first introduced into the practice of using a four-day test for sensitivity to GH to confirm the diagnosis of biologically inactive growth hormone syndrome (BIGHS) and the appointment of pathogenetically reasonable treatment of children with this pathology. For genetic confirmation of BIGHS, it is recommended to use the GH gene sequencing technique to detect abnormalities of its structure at all sites, rather than to search for individual mutations. Great practical importance has the 2-stage test for the generation of IGF-I to GH for differential diagnosis of BIGHS. An algorithm for differential diagnosis of BIGHS with other forms of short stature, which are accompanied by preserved somatotropic function, has been put into practice. Detection of deficiency of one or more essential microelements (EM) in children with growth retardation is the basis for the prescription of drugs with appropriate microelements. It has been shown that the sensitivity to recombinant GH drugs in children with BIGHS is worse than in patients with somatotropic insufficiency, so it is recommended to start treatment with patients with BIGHS with higher doses of GH drugs. Novelty: a comprehensive study of the physical and hormonal status of children and adolescents with BIGHS was performed for the first time. The frequency of BIGHS among children with general short stature was determined. For the first time in Ukraine, a D112G mutation study was performed in patients with BIGHS for genetic verification of Kovarsky syndrome. The state of thyrotropic and adrenocorticotropic functions in children with BIGHS under conditions of long-term use of recombinant GH drugs has been determined and specified. The study of ghrelin (Ghr) content in children with BIGHS was performed for the first time and the Ghr / GH / IGF-I ratio was determined in this category of patients. Information was obtained on the provision of EM (zinc, selenium, manganese chromium, copper). Degree of implementation: the results of the performed work are integrated into the medical and educational processes of medical institutions of Ukraine and will allow to develop protocols for the diagnosis and treatment o fBIGHS, which will help patients to achieve optimal final growth and bring it closer to the genetically predicted one. Areas of use: endocrinology