Role of the pentanucleotide (tttta)n polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism

Objective: To determine if the (tttta)(n) repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain. Design: Controlled clinical study. Setting: Tertiary-care institutional hospital. Patient(s): Ninety-two hirsute women and 33 healthy control women. Intervention(s): Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle. Main Outcome Measure(s): CYP11a (tttta)(n) repeat-polymorphism genotype and serum ovarian and adrenal androgen level. Result(s): None of the CYP11a (tttta)(n) polymorphic alleles was associated with hirsutism. The absence of the four-repeat-units allele (4R- genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R- individuals as compared with subjects with at least one four-repeat-units allele. Conclusion(s): The (tttta)(n) repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain. (Fertil Steril (R) 2001;75:797-802. (C) 2001 by American Society for Reproductive Medicine.)