Residual Activity of Mutant Androgen Receptors Explains Wolffian Duct Development in the Complete Androgen Insensitivity Syndrome

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...

complete androgen insensitivity syndrome in three sisters

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Laparoscopic gonadectomy in complete androgen insensitivity syndrome.

Laparoscopic orchiectomy was performed in a 16-year-old patient with complete androgen insensitivity syndrome. Pathology revealed in situ carcinoma of the seminiferous tubules.

Complete Androgen Insensitivity Syndrome in Three Sisters

Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically fe...