Magnetic Resonance Imagery Findings in Androgen Insensitivity: A case series

Abstract

Androgen insensitivity syndrome (AIS) is a sex-development disorder resulting from mutations in the androgen receptor. In its complete form, patients are genetically male but phenotypically female, presenting with primary amenorrhea. We report three cases of AIS highlighting the multifaceted role of magnetic resonance imaging (MRI) for presurgical planning by evaluating location and type of gonads and detecting complications. All patients presented at the Gynaecology Out-patient Department of Command Hospital, Bangalore, India, between 2013–2016 with primary amenorrhea and MRI accurately localised testes in all; one patient had bilateral inguinal testes; two had intraabdominal testes. Intraabdominal testes were not localised on ultrasonography. MRI also depicted Sertoli cell adenomas and Wolffian duct remnants. MRI provides comprehensive imaging before surgical treatment and can, thus, be considered a ‘one-stop shop’ for AIS imaging. All patients underwent laparoscopic gonadectomy which is the standard of care, with preoperative counselling about fertility. Postoperatively, they were started on oestrogen therapy.

Keywords: Amenorrhea; Androgen Insensitivity Syndrome; Magnetic Resonance Imaging; Case Report; India.