%0 Journal Article
%T Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults
%A Marco Nezzo
%A Pieter De Visschere
%A Guy T'Sjoen
%A Steven Weyers
%A Geert Villeirs
%J Case Reports in Radiology
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/158484
%X Complete androgen insensitivity syndrome is an X-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 M¨¹llerian 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 external genitalia, normal breast development, and little axillary and pubic hair. The digital vaginal examination revealed a short, tight, and blind-ended vagina. An ultrasound (US) exam performed in another hospital had suggested the presence of gonads located in the pelvis. A magnetic resonance imaging (MRI) exam (Figure 1) was performed to plan a laparoscopic gonadectomy and showed two soft tissue structures suggestive for gonadal tissue located in the right obturator canal and along the left external iliac artery. A pericentimetric cyst was found adjacent to each gonad. Apart from the vagina, no development of M¨¹llerian duct structures was observed. Figure 1: A 34-year-old female with CAIS syndrome. The axial T2-weighted images ((a) and (b)) show a left testis along the left external iliac artery and a right testis in the right obturator canal (green arrows) with adjoining cysts (red arrows). Sagittal image (c) shows absence of M¨¹llerian structures and presence of the lower vagina (yellow arrowheads) (3T magnetic resonance imaging. Axial 4£¿mm fast T2-weighted images, TR/TE 5030/119£¿ms; sagittal 5£¿mm HASTE-sequence, TR/TE 6500/89). 2. Case 2 A 22-year-old female underwent two episodes of surgery for inguinal hernia before puberty. She was told that she has no uterus at the age of 15, but the diagnosis of CAIS was only recently made at another hospital. She had a male
%U http://www.hindawi.com/journals/crira/2013/158484/