Diagnosing and Managing Androgen Insensitivity Syndrome

Introduction: Androgen insensitivity syndrome is a rare congenital abnormality of genital organs revealing a female phenotype in a person with XY chromosomes. The aim of our work is to describe the clinical aspects, to determine the chromosomal sex and to report our therapeutic management. Observation: A 28-year-old woman with female phenotype, feminine voice, normal breast development, normal underarms and pubic hair, absence of menstruation, fusion of small and large vaginal lips leaving a small pertuis to serve as urethral meatus. On the dorsal surface of the large, left lip was a mass the size of a date. Hormonal balance was normal. A feminizing genitoplasty was performed as well as excision of the mass. Histological analysis of the mass concluded that it was a feminizing testicular. Conclusion: Androgen insensitivity syndrome is a rare abnormality of the genitals. Multidisciplinary management is essential both for the designation of the breeding sex and feminizing genitoplasty.