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Updated: May 16, 2026

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
Androgen receptor gene polymorphism and polycystic ovary syndrome
Lawrence H Lin1, Maria C P Baracat, Gustavo A R Maciel
1Gynecology Division, Department of Obstetrics and Gynecology, Clinics Hospital, School of Medicine, University of São Paulo, Sao Paulo, Brazil. law.email@yahoo.com
Background:
Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and hyperandrogenism. Its etiopathology is not well understood but genetic factors seem to have a role. Polymorphism of the androgen receptor (AR) gene has been associated with different androgen pattern diseases.
Objective:
To review the association between AR gene polymorphism and PCOS.
Search Strategy:
A systematic review was performed via PUBMED, EMBASE, and LILACS (up to May 31, 2011).
Selection Criteria:
Studies assessing the presence of the (CAG)(n) polymorphism of the AR gene in at least 2 comparison groups (PCOS and control). Studies that did not contain adequate information were excluded.
Data Collection And Analysis:
Study characteristics and results were analyzed. Meta-analysis could not be performed because only 2 articles provided odds ratios.
Main Results:
Ten studies met the inclusion criteria. Three studies reported a correlation between the polymorphism and PCOS; 2 studies linked the disorder to shorter repeats, whereas the other associated it with longer repeats.
Conclusion:
Polymorphism of the AR gene seems to be a promising biomarker for PCOS because shorter repeats may be linked to the disorder. However, further studies are needed to understand the association fully.
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