A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11 (beta)-hydroxysteroid dehydrogenase type 1 gene 83557 ins a polymorphisms in the polycystic ovary syndrome.

Context: The R453Q variant in the hexose-6-phosphate dehydrogenase gene (H6PD) and 83557insA mutations in 11β-hydroxysteroid dehydrogenase (11βHSD) type 1 gene (HSD11B1) interact, resulting in cortisone reductase deficiency (CRD), a rare disorder characterized by a polycystic ovary syndrome (PCOS)-like phenotype.Objective: The objective was to study these mutations in PCOS.Design: The design was a case-control study.Setting: The study was conducted in an academic hospital.Participants: A total of 116 PCOS patients and 76 nonhyperandrogenic controls participated.Main Outcome Measures: Genotype distributions and influence ofgenotypes on clinical and biochemical variables and, in 28 patients and 12 controls, estimates of 11βHSD oxoreductase activity were the main outcome measures.Conclusions: Digenic triallelic genotypes of the H6PD R453Q variant and HSD11B1 83557insA mutation do not always cause CRD. On the contrary, the H6PD R453Q variant is associated with PCOS and might influence its phenotype by influencing adrenal activity.