Abstract
Goal To study the growth hormone (GH) and insulin-like growth factor (IGF-1, IGFBP-3) secretion in genetically determined types of short stature (GDSS) in Uzbekistan. Materials and methods We examined 92 patients with GDSS [11 - Russel-Silver syndrome (RSS), 16 - Noonan syndrome (NS), 10 - Sekkel syndrome (SS), 9 - Prader-Willi syndrome (PWS), 8 - Cornelius de Lange syndrome (CLS), 38 girls with TS] at the age of 7–18. A level of GH, IGF-1, IGFBP-3, anthropometry (SDS) was studied. Results Stunting of various degrees of expression was observed in all patients with GDSS but it was most expressed in patients with RSS (-5.16 ± 1.18 SDS), SS (-4.18 ± 1.12 SDS) and CLS (-6.10 ± 1.14 SDS). A reliably low level of GH vs. the control was found in patients with CLS (0.64 ± 0.05 ng/ml, p Conclusions In Uzbek patients with GDSS pronounced stunting was found in patients with RSS, SS and CLS which was associated with disturbances of a direct and reverse relation in the GH-IGF-IGFBP-3 system. A low GH level and relative deficiency of IGF-1 and IGFBP-3 in girls with TS was related with disturbances in the pituitary-ovarian system.
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