Complete androgen insensitivity syndrome

Asra Hashmi; Farah Hanif; Shumaila Muhammad Hanif; Farhan Essa Abdullah; Muhammad Shahid Shamim

Author(s)

Asra Hashmi Research Coordinator, Dow University of Health Sciences, Karachi, Pakistan.

Farah Hanif Research Coordinator, Dow University of Health Sciences, Karachi, Pakistan.

Shumaila Muhammad Hanif Research Coordinator, Dow University of Health Sciences, Karachi, Pakistan.

Farhan Essa Abdullah Department of Pathology, Dow University of Health Sciences, Karachi, Pakistan.

Muhammad Shahid Shamim Department ofSurgery, Dow University of Health Sciences, Karachi, Pakistan.

Abstract

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genitalia and the presence of abdominal mass, possibly testes. Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. Gonadectomy was performed and life long Hormone replacement therapy was advised.

Publication Details

Page(s) 442-444

DOI DOI not available

Published Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 18, Issue: 7, Year: 2008

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Keywords

Androgen insensitivity syndrome (AIS). Complete androgen insensitivity syndrome (CAIS). Partial androgen insensitivity syndrome (PAIS). Testicular feminization. Androgen receptor deficiency. Androgen resistance syndrome.