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KMID : 0358420150580020179
Korean Journal of Obstetrics and Gynecology
2015 Volume.58 No. 2 p.179 ~ p.182
Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome
Nam Hyoun

Kim Chung-Hoon
Cha Min-Young
Kim Jae-Min
Kang Byung-Moon
Yoo Han-Wook
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.
KEYWORD
Androgen-insensitivity syndrome, Androgen receptor gene polymorphism, Polycystic ovary syndrome
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