XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia.

[Complete androgen insensitivity syndrome: diagnosis and clinical characteristics].

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the ...

Complete Androgen Insensitivity Syndrome in Three Sisters

Complete Androgen Insensitivity Syndrome.

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 genita...

A large advanced seminoma in an older woman with androgen insensitivity syndrome

A 58-year-old woman who presented with inguinal hernia for the first time was diagnosed as seminoma and complete androgen insensitivity syndrome (CAIS). The patient received a late diagnosis, and therefore she could not take a proper management. CAIS is a rare X-linked recessive disease with an XY karyotype that is caused by androgen receptor defects. It usually present with primary amenorrhea ...

Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome

Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-ol...