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 < 0.05), RSS (0.7 ± 0.04 ng/ml, p < 0.05), SS (1.02 ± 0.07 ng/ml, p < 0.05) on the background of a low level of IGF-1 and IGFBP-3. Patients with NS, TS and PWS had a level of GH within the lower limit norm, 12 girls with TS had a GH level which was reliably low (0.04 ± 0.05 ng/ml, p < 0.05) but IGF-1 and IGFBP-3 rates corresponded to the lower limit of the age norm.

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.