Polycystic Ovary Syndrome
Polymorphism T→C (−34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome

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Abstract

Objective: To investigate the frequency of T→C substitution (−34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of the syndrome.

Design: Follow-up study.

Setting: Academic research setting.

Patient(s): Fifty patients with PCOS and 50 healthy women.

Intervention(s): Body mass index and the waist-hip ratio were determined for each woman. Blood samples were obtained for DNA analysis and hormone estimates.

Main Outcome Measure(s): Serum total T levels.

Result(s): Seventeen patients (34%) did not carry the base pair substitution (genotype A1A1) and their mean (± SD) total T level was 75.7 ± 32.2 ngl/dL, 29 patients (58%) were heterozygous carriers of the A2 allele (genotype A1A2) and their mean total T level was 77.8 ± 29.9 ng/dL, and 4 patients (8%) carried the A2 allele in homozygosity (genotype A2A2) and their mean total T level was 87.0 ± 2.8 ngl/dL. Twenty-two controls had the genotype A1A1 (44%) and their mean total T level was 39.1 ± 15.5 ng/dL, whereas 28 (56%) had the genotype A1A2 and their mean total T level was 44.9 ± 22.1 ng/dL. Homozygosity of the polymorphic A2 allele was not observed in controls, and this difference (8% versus 0%) was statistically significant.

Conclusion(s): Although this base pair substitution is not the primary genetic defect in PCOS, it may aggravate the clinical picture of hyperandrogenemia, particularly when homozygosity exists.

Keywords

Polycystic ovary syndrome
hyperandrogenism
enzyme P450c17a
gene CYP17

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Supported in part by the State Scholarship Foundation of Greece, Athens, Greece (M.I.B.).