title: Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome.
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.
authors: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Hyoun
authors: H
authors: Nam
authors: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. ; Medical Genetic Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Chung-Hoon
authors: CH
authors: Kim
authors: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Min-Young
authors: MY
authors: Cha
authors: Medical Genetic Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Jae-Min
authors: JM
authors: Kim
authors: Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Byung-Moon
authors: BM
authors: Kang
authors: Medical Genetic Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors: Han-Wook
authors: HW
authors: Yoo
keywords: Androgen receptor gene polymorphism; Androgen-insensitivity syndrome; Polycystic ovary syndrome