Introduction: Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women of reproductive age and is the main cause of ovulation disorders. Primary ovarian insufficiency (POI) is a clinical syndrome characterized by loss of ovarian activity before the age of 40 years. All of these disorders lead to the risk of infertility. Therefore, this study aims to assess the AMH gene sequence and the effect of SNP on AMH levels and function. Method: This research was a cross-sectional study. The sample was divided into three groups such as PCOS, POI, and control. This study used ELISA and PCR examination methods. Research data were analyzed using IBM SPSS version 22. The statistical analyses used were the ANOVA, Kruskal-Wallis, chi-square, and Spearman tests. A significant p-value was ≤ 0.05. Results: There were 31 research subjects, 8 POI subjects, 16 PCOS subjects, and 7 control subjects. Overall 30 mutations were found, with two mutations in the gene promoter and 28 mutations in the structure of the AMH gene. Five mutations in the AMH gene structure were missense mutations. 14 SNPs were found in the POI group and 15 SNPs in the PCOS group. There was a significant difference in AMH AMH gene promoter mutation frequency distribution between the POI and PCOS groups at the mutation point 19:g.2249146T>G (p=0.007). In contrast, the mutation point 19:g.2249158T>A was not significantly different (p=0.536). There was no significant correlation between the number of promoter mutations and AMH gene structure with AMH levels in the POI, PCOS and control groups. Conclusion: There were mutations in the promoter and AMH gene structure of the POI, PCOS, and control groups which caused differences in base sequences. However, in this study, the differences in mutations were not significantly different.
- Anti-Mullerian hormone
- polycystic ovarian syndrome
- primary ovarian insufficiency