Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a classic disorder of sex development (DSD) and a key case study for Zambian students in endocrinology and medical genetics. This topic explores the genetic basis of AIS, caused by mutations in the androgen receptor (AR) gene on the X chromosome, which renders tissues unresponsive to testosterone and dihydrotestosterone. Students will learn the spectrum of the condition, from complete AIS (CAIS), where XY individuals develop a female phenotype, to partial forms (PAIS) with ambiguous genitalia. The clinical presentation, diagnosis, hormonal profiles, and management considerations, including psychosocial aspects, are covered. This detailed study aligns with advanced human genetics and endocrinology syllabi in Zambia, providing crucial knowledge for clinical examinations, genetic counselling, and the compassionate, multidisciplinary care of individuals with DSDs in the Zambian healthcare context.