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KMID : 0358420090520111169
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Korean Journal of Obstetrics and Gynecology
2009 Volume.52 No. 11 p.1169 ~ p.1173
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A case report of sisters with complete androgen insensitivity syndrome
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Lim So-Hee
Lee Sang-Hun
Lee Jin-Kyoung
Kim Sung-Hoon
Chae Hee-Dong
Kim Jeong-Hun
Kang Byung-Moon
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Abstract
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The complete androgen insensitivity syndrome is a genetic disorder that phenotypicaly female with normal male karyotype 46XY. It is inherited in an X-linked, recessive fashion. The defect affecting the gene responsible for the androgen intracellular receptor, that abolishes the target cells response to testosterone. This is a rare case but recently we experienced two cases , sisters in same family, so we presented them with brief review of literature.
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KEYWORD
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Androgen insensitivity syndrome, Genetic disorder, 46XY
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