KMID : 0358420150580020179
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Korean Journal of Obstetrics and Gynecology 2015 Volume.58 No. 2 p.179 ~ p.182
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Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome
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Nam Hyoun
Kim Chung-Hoon Cha Min-Young Kim Jae-Min Kang Byung-Moon Yoo Han-Wook
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Abstract
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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.
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KEYWORD
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Androgen-insensitivity syndrome, Androgen receptor gene polymorphism, Polycystic ovary syndrome
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