A case report of sisters with complete androgen insensitivity syndrome.

Lim, So Hee; Lee, Sang Hun; Lee, Jin Kyung; Kim, Sung Hoon; Chae, Hee Dong; Kim, Chung Hoon; Kang, Byung Moon

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Case Report

Korean Journal of Obstetrics & Gynecology 2009;52(11):1169-1173.
Published online November 1, 2009.

A case report of sisters with complete androgen insensitivity syndrome.

So Hee Lim, Sang Hun Lee, Jin Kyung Lee, Sung Hoon Kim, Hee Dong Chae, Chung Hoon Kim, Byung Moon Kang

Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea. bmkang@amc.seoul.kr

Abstract

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.

Key Words: Androgen insensitivity syndrome, Genetic disorder, 46XY

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