Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome.
10.5468/ogs.2015.58.2.179
- Author:
Hyoun NAM
1
;
Chung Hoon KIM
;
Min Young CHA
;
Jae Min KIM
;
Byung Moon KANG
;
Han Wook YOO
Author Information
1. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. chnkim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Androgen-insensitivity syndrome;
Androgen receptor gene polymorphism;
Polycystic ovary syndrome
- MeSH:
Androgen-Insensitivity Syndrome*;
Child*;
Female;
Humans;
Male;
Parturition*;
Polycystic Ovary Syndrome*;
Receptors, Androgen*
- From:Obstetrics & Gynecology Science
2015;58(2):179-182
- CountryRepublic of Korea
- Language:English
-
Abstract:
Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is a multifactorial polygenic disorder with a broad spectrum of clinical manifestations. Although pathogenesis is still unclear, androgen receptor (AR) gene polymorphism may be one of the etiologic factors of PCOS. AR gene polymorphism has been also associated with other forms of androgen pattern diseases. We report a PCOS woman with heterozygous AR gene mutation who gave birth to a baby with andorgen insensitivity syndrome.