complete androgen insensitivity syndrome in three sisters

Complete Androgen Insensitivity Syndrome in Three Sisters

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...

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...

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--a review.

This review paper highlights important diagnostic and therapeutic concerns for girls with Complete Androgen Insensitivity Syndrome (CAIS). CAIS is an androgen receptor defect disorder associated with vaginal and uterine agenesis in women with a 46,XY karyotype. The major clinical issues surrounding this syndrome include timing of gonadectomy, hormone replacement, vaginal dilation, and attention...

Three Siblings with Androgen Insensitivity Syndrome.

Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common ...