ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

Abstract

Background:  AIS is one of the most commonly diagnosed XY DSD, with an estimated prevalence of 2:100.000 to 5:100.000¹ and an incidence of 1:20.000² to 1:99.000³. The name testicular feminization syndrome was coined by John McLean Morris of Yale University in 1953. The first description of this syndrome dates back to 1817, as quoted by Morris ⁴. It is the third most common cause of primary amenorrhea after gonadal dysgenesis and Mullerian agenesis ⁵.

Case Report and Discussion: A 15-year-old phenotypic girl was evaluated for primary amenorrhea to find Complete Androgen Insensitivity Syndrome (CAIS) and underwent bilateral orchidectomy with plan for vaginoplasty at AIMSR, Hyderabad.

Review of Literature:  The treatment of AIS is based on the reinforcement sexual identity, gender identity plan and hormone replacement therapy. The prognosis is good, if the testicular tissue is resected at proper time.

Conclusion: CAIS should be considered as important differential diagnosis in delayed menarche while evaluation for primary amenorrhea and early gonadectomy can avoid gender identity disorder (GID) / psychological issues

Keywords: CAIS, GID