usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome

Complete androgen insensitivity syndrome (CAIS) is an X-linked, recessive disorder caused by mutations of the androgen receptor (AR), in which genetic males (46,XY) show female external genitalia. Individuals with CAIS have mostly normal external genitalia, lack of Müllerian structures (Fallopian tubes, uterus, proximal portion of the vagina) and undescended testes (intra-abdominal, inguinal, or labial). Management and diagnosis of CAIS should be undertaken by a multidisciplinary team of experts in sexual development disorders. Gonadectomy represents a standard therapeutic choice to prevent testicular malignancy in the prepubertal period, with subsequent hormonal replacement therapy, or in late adolescence, after completion of pubertal development. Imaging examinations play a pivotal role in the diagnosis, assessment, and detection of the gonads before surgical treatments. Magnetic resonance imaging (MRI) is the gold standard to diagnose and locate the gonads, and to plan laparoscopic gonadectomy and gonadic surveillance, in particular in the increasingly large number of patients who decide to delay or ultimately not to undergo gonadectomy. We present a case of a 14-year-old female with primary amenorrhea.