ECE2007 Symposia Polycystic ovary syndrome (4 abstracts)
The CAG repeat polymorphism of the androgen receptor gene is an independent risk factor for polycystic ovary syndrome (PCOS)
Andreas Schuering 1 , Andrea Jurgens 1 , Jorg Gromoll 2 , Michael Zitzmann 2 , Barbara Sonntag 1 , Eberhard Nieschlag 2 , Robert Greb 1 & Ludwig Kiesel 1
1Department of Obsterics and Gynecology Muenster University Hospital, Muenster, Germany; 2Institute of Reproductive Medicine, Muenster University Hospital, Muenster, Germany.
Introduction: Polycystic ovary syndrome (PCOS) is a frequent disorder with a variable phenotype and a suspected genetic background. Androgenic effects constitute the central mechanism for the clinical, biochemical and sonographic features of PCOS. Androgenic effects are transported by the androgen receptor, whose activity can be modulated by a genetic polymorphism. We investigated the role of the CAG repeat polymorphism of the androgen receptor in PCOS.
Patients and methods: In the infertility unit of a university clinic 126 patients fulfilling the Rotterdam criteria of PCOS were compared with 184 controls undergoing a standardized diagnostic work-up prior to infertility treatment. Individuals were assessed regarding clinical, endocrine and sonographic parameters indicating the presence of PCOS. The number of CAG repeats was determined by PCR, labelling with IR-800 and PAGE. X-chromosome inactivation was assessed by a methylation-sensitive assay. CAG repeat length was compared between groups and correlated with the extent of oligomenorrhoea. In a regression analysis CAG repeat length was tested including established risk factors of PCOS.
Results: PCOS patients displayed a shorter mean CAG repeat length compared to controls (P=0.001). CAG repeat length correlated inversely with the extent of oligomenorrhea, a central androgen dependent feature of PCOS (P=0.007). In a binomial regression analysis including BMI, LH and testosterone, CAG repeat length was identified as a novel independent risk factor for PCOS (P=0.001).
Conclusion: The CAG repeat polymorphism was identified as a novel independent risk factor for PCOS. It could constitute a factor in the familial background, convey the phenotypic variability and transport metabolic consequences of the syndrome.
Volume 14
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Endocrine Abstracts
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