Prediction of menstrual-ovarian cycle disorders in adolescent girls based on the study of genetic markers

Objective. To increase the efficiency of diagnostics and treatment of various menstrual dysfunctions in adolescent girls based on the study of the etiopathogenetic role of genetic markers in the development of this pathology. Material and methods. This research was carried out at the Department of Obstetrics and Gynecology No. 2 of the Bukhara State Medical Institute, as well as in central clinics and maternity hospitals of the Bukhara and Romitan districts, in the regional children’s multidisciplinary medical center, in the regional perinatal center, in the Regional Screening Center “Mother and Child”. A total of 272 adolescent girls were included in the study. The main group consisted of 192 adolescent girls aged 11—17 years with various types of menstrual cycle disorders, the control group consisted of 80 practically healthy girls of the same age, who were analyzed for the rs726547 polymorphism of the CYP19A1 gene. Results. According to the distribution of alleles, it was found that the proportion of the wild-type allele C in the control group was higher than in the main group (87.1 and 73.6%, respectively), while the non-wild-type allele or mutant allele-T was more common in the main group: this indicator in the control group was 12.9%, while in the main group this indicator was 26.4%. According to the distribution of genotypes, homozygous CC, or wild-type genotype, was detected in 55.5% of patients, heterozygous CT genotype was found in 36.4% of adolescent girls with menstrual cycle disorders, homozygous TT, or short-type genotype, was found in 8.1% of patients in the main group. In the control group, a statistically significant difference in the content of various genotypes was found. In particular, the proportion of homozygous CC genotype was 77.1%, heterozygous CT genotype and homozygous TT genotype — 20.0 and 2.9%, respectively. In the main group, the mutant homozygous genotype was more common, and in the control group, the normal homozygous genotype dominated. The prevalence of genotypes in the studied rs726547 polymorphisms of the CYP19A1 gene was tested using the Hardy-Weinberg formula. We did not find a comparative difference between the distribution of the observed and expected genotypes in both groups, which corresponds to the Hardy-Weinberg law and shows the absence of a statistically significant deviation (χ2<3.84; p>0.05). Conclusion. Using genetic analysis, it was found that the minor allele T of the rs726547 polymorphism was found 2 times more often in the subgroup with frequent menstruation and heavy menstrual bleeding (35.9%) than in the control group (12.9%), which indicates the presence of a statistically significant relationship between menstrual cycle disorders, hyperpolymenorrhea, heavy menstrual bleeding and the rs726547 polymorphism in the Uzbek population. This is probably due to the fact that this type of polymorphism promotes the activation of the aromatase enzyme, which converts testosterone into estradiol. This explains the long and heavy menstruation against the background of endometrial hyperplasia. The prognostic significance of the alleles of this polymorphism has been established, indicating that the homozygous wild-type genotype CC plays a protective role and reduces the risk of menstrual cycle disorders by 36%, while the heterozygous genotype CT increases this risk by 44%, playing an inducing role in the pathogenesis of menstrual cycle disorders.