Publication:

A case of partial androgen insensitivity syndrome: from diagnosis to management

Partial androgen insensitivity syndrome (PAIS) is a rare 46XY disorder that results from mutations in androgen receptors leading to failure of normal masculinization of external genitalia in genetically male individuals. An 18-year-old female visited our OPD i/v/o not attainment of menarche, on examination minor virilization of voice, bilateral inguinal masses, poorly developed labia majora, clitoromegaly, blind vaginal pouch was noted. Imaging showed absent mullerian structures with bilateral ectopic testes with overall features of partial androgen insensitivity syndrome. Karyotyping showed 46XY. PAIS can be presented as ambiguous genitalia at birth or as predominant female to male phenotype with varying degrees of virilization. Early identification and multi-disciplinary management aiming at appropriate gender assignment, gonadectomy, reconstructive surgery, hormone replacement therapy and screening of other family members should be done.