Complete Androgen Insensitivity Syndrome

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

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16 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 languageEnglish
Pages (from-to)442-444
Number of pages3
JournalJournal of the College of Physicians and Surgeons--Pakistan : JCPSP
Volume18
Issue number7
Publication statusPublished - Jul 2008
Externally publishedYes

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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