DOI: 10.36347/sjmcr.2015.v03i03.012

Pages: 217-221

Androgen Insensitivity Syndrome (AIS) is a disorder of sexual development (DSD). It is caused by a mutation in the androgen receptor (AR) gene resulting in deficient action of androgens and therefore incomplete masculinization. Two forms of AIS are described: Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS). CAIS is also known as testicular feminization (TF). Patients with CAIS are all phenotypically female while having 46, XY karyotype and testis, and sometimes first come to medical attention with complaints of amenorrhea or infertility. We report the case of two sisters, aged respectively 38 and 40 years, who have a CAIS. The diagnosis was made in front primary amenorrhea with high testosterone levels, the presence of testicular formations in the labia majora and 46, XY karyotype. The younger of the two sisters had bilateral orchiectomy and was put on hormone replacement therapy. The search for the gene mutation of AR is in progress. Through these two observations we recalled the physiopathological basis of this syndrome and its clinical aspects and the therapeutic implications.