Overlook the androgen insensitivity syndrome with a familial case study

Abstract

To objective of this study was to present androgen insensitivity syndrome is seldom seen, in a family with three affected individuals. A 16-year-old,a 17-year-old, and a 18-year-old phenotypic female three individuals with primary amenorrhea were evaluated through a diagnostic protocol that included clinical, cytogenetic, and hormonal examinations. After the patients were diagnosed as androgen insensitivity syndrome, they were were operated on for gonadectomy and vaginoplasty with pudental thigh flep and postoperative long-term exogenous estrogen replacement therapy was started. The patients have succesfully been followed with exogenous estrogen replacement therapy for six years, which gives them comfortable social and phsychosexual life as women in accordance with their desire.