ESPE Abstracts

Aim of the work: to study 21-CYP mutations on the development of premature adrenarche in girls of Uzbek nationality

Materials and Methods: We conducted a comparative analysis of the effect of 21-CYP mutations on the clinical symptoms of pathology and the hormonal status of girls with PA. In this regard, the girls were divided into 2 groups: group 1 consisted of 36 girls in whom the 21-CYP mutation was not identified, group 2 consisted of 44 girls with the 21-CYP mutation identified.

Results: As a result of the analysis, it was established that in girls with the 21-CYP mutation the manifestation of the disease was earlier than in girls without the mutation by almost 1 year, but these data were not reliable (5.54±1.7 versus 4.83±1.63 years). However, among the examined girls with the 21-CYP gene mutation, pubic hair growth was registered 1.19 years earlier (6.06±1.40 vs. 4.87±1.26 years; P <0.0165), and axillary hair growth was observed almost in at the same age (6.34±1.17 versus 6.59±0.76 years). Pubic and axillary hair growth in girls without the 21-СYP mutation was registered at the age of 6.01±1.38 years, and with the 21-СYP mutation – at 5.04±1.30 years (P <0.0452). Characteristic features were also established in the hormonal status, for example, with the 21-CYP mutation, a significant 4-fold increase in the level of DHEA was noted (7.57±1.8 versus 32.5±4.6; P <0.01), 2. 5-fold increase in DHEAS (2.25±1.21 versus 5.54±1.3 mmol/l), 16-fold increase in 17-OP level (15.04±2.7 versus 1.46±0, 9), a 2-fold increase in androstendinone (3.58±1.1 versus 1.82±1.2) against the background of a 6-fold decrease in insulin levels (1.3±0.9 versus 6.12±0. 29) and 3-fold AMH (4.25±0.11 versus 14.15±0.83).

Conclusion: Thus, it can be assumed that girls with PA without the 21-CYP mutation have a high risk of developing PCOS in the future, and girls with PA and the 21-CYP mutation have a high risk of developing CAH.