ABSTRACT
OBJECTIVES: To investigate the distribution and functional significance of CYP11alpha (tttta)n microsatellite polymorphism in Korean patients with polycystic ovary syndrome MATERIALS AND METHODS: Analysis of CYP11alpha(tttta)n microsatellite polymorphism was carried out on DNA samples from 97 patients with polycystic ovary syndrome and 70 normal controls. Comparison were done between PCOS patients and controls concerning CYP11alpha (tttta)n microsatellite polymorphism genotype or allele frequencies. RESULTS: The most frequent allele observed in the controls was an allele with six repeats (60.7%). Significant difference in the frequency of genotype (4R (-) genotype) having no copy of four-repeat-allele were observed between PCOS patients and controls (66.0% vs 34.0%, p=0.038, OR=1.939). But no significant difference was observed in the serum levels of total testosterone or free testosterone between 4R (+) genotype and 4R (-) genotype among PCOS patients. However, hyperandrogenic PCOS patients with 4R (+) genotype showed a higher serum testosterone levels compared to controls (mean+/-S.D: 0.49+/-0.21 ng/ml vs 0.37+/-0.18 ng/ml, p=0.037). CONCLUSION: The alleleic distribution of CYP11alpha (tttta)n microsatellite polymorphism in Korean subjects were different from those reported in Caucasians. CYP11alpha (tttta)n microsatellite polymorphism was associated with polycystic ovary syndrome in the Korean population, and may play a role in the synthesis of androgens in patients with polycystic ovary syndrome.