Korean J Obstet Gynecol.  2009 Nov;52(11):1169-1173.

A case report of sisters with complete androgen insensitivity syndrome

Affiliations
  • 1Department 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.

Keyword

Androgen insensitivity syndrome; Genetic disorder; 46XY

MeSH Terms

Androgen-Insensitivity Syndrome
Female
Humans
Karyotype
Male
Siblings
Testosterone
Testosterone
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