Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

Copyright © 2013 Marco Nezzo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Complete androgen insensitivity syndrome is anX-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdominal, labial, or inguinal testes.The estimated prevalence is between 1 and 5 in 100,000 genetic males. Complete androgen insensitivity syndrome can be diagnosed as a result of mismatch between the prenatal sex prediction and the phenotype at birth, can be detected by chance, or remain undetected until investigations for primary amenorrhea. Imaging can be important both to diagnose the pathology and to localize gonads prior to surgical treatment. In this paper, we present three cases of complete androgen insensitivity syndrome in adult women of 34, 22, and 38 years old. 1. Case 1 A 34-year-old female was referred by the endocrinologist of our hospital. Her older sister had been diagnosed with complete androgen insensitivity syndrome (CAIS) at the age of 17. She had a female phenotype with normal externa