DOI: 10.36347/sjams.2014.v02i06.072

Pages: 3215-3218

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is a disorder of sex development caused by mutations in the gene encoding the androgen receptor, and characterized by 46 XY karyotype, bilateral testes, absent Mullerian duct structure, and female appearing external genitalia. This is a retrospective, hospitalbased study conducted over 25 years (1989-2014) at King Khalid University Hospital, Riyadh, Saudi Arabia. The case notes, imaging and laboratory investigations were reviewed for patients diagnosed with androgen insensitivity. During the period under review, a total of 16 patients were seen with androgen insensitivity syndrome (AIS), with variable degrees of insensitivity ranging between complete 11 (68.2%) and partial 5 (31.2%). The clinical characteristic and radiological imaging are presented. The extent of androgen insensitivity in 46 XY individuals is not that rare in a community with high incidence of consanguineous mating. A multidisciplinary team approach is essential for successful management.