KMID : 0356620150300020226
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Journal of Korean Society of Endocrinology 2015 Volume.30 No. 2 p.226 ~ p.230
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Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
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:Lee Sung-Won
:Kwak Dong-Shin/:Jung In-Sub/:Kwak Joo-Hee/:Park Jung-Hwan/:Hong Sang-Mo/:Lee Chang-Bum/:Park Yong-Soo/:Kim Dong-Sun/:Choi Woong-Hwan/:Ahn You-Hern
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Abstract
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Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation caused by mutations within the androgen receptor gene. All individuals with AIS have the 46 XY karyotype, although AIS phenotypes can be classified as mild, partial or complete and can differ among both males and females including ambiguous genitalia or infertility in males. We experienced a case of partial AIS presenting with gynecomastia and identified the androgen receptor gene mutation.
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KEYWORD
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Gynecomastia, Androgen-insensitivity syndrome, Receptors, androgen
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