Incomplete androgen insensitivity syndrome: A family presenting with small penis, gynecomastia and undervirilization

Abstract

A family with incomplete androgen insensitivity syndrome is presented. The phenotypic features of the two post-pubertal patients were small penis, gynecomastia and undervirilization, whereas one prepubertal child showed only small penis. The genotypes were found to be 46 XY. Studies of the basal and stimulated plasma testosterone levels indicated a defect in androgen action. Mesterolone, an orally active androgen, were given to postpubertal patients. A partial response in body hair development was observed with the treatment course.