Complete Androgen Insensitivity Syndrome

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

Complete Androgen Insensitivity Syndrome

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

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

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.

Original language	English
Pages (from-to)	442-444
Number of pages	3
Journal	Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Volume	18
Issue number	7
Publication status	Published - Jul 2008
Externally published	Yes

Keywords

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

Cite this

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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.",

keywords = "Androgen insensitivity syndrome (AIS), Androgen receptor deficiency, Androgen resistance syndrome, Complete Androgen Insensitivity Syndrome (CAIS), Partial androgen insensitivity syndrome (PAIS), Testicular feminization",

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AU - Hashmi, Asra

AU - Hanif, Farah

AU - Hanif, Shumaila Muhammad

AU - Abdullah, Farhan Essa

AU - Shamim, Muhammad Shahid

PY - 2008/7

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N2 - 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.

AB - 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.

KW - Androgen insensitivity syndrome (AIS)

KW - Androgen receptor deficiency

KW - Androgen resistance syndrome

KW - Complete Androgen Insensitivity Syndrome (CAIS)

KW - Partial androgen insensitivity syndrome (PAIS)

KW - Testicular feminization

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SN - 1022-386X

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Complete Androgen Insensitivity Syndrome

Abstract

Keywords

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