Disorders of sex development present with a wide spectrum of phenotypic variations. The gonads, sex ducts and genitalia as well as the urinary system are must be evaluated to make a diagnosis and a plan for treatment or observation. Ultrasound stands out as the most versatile imaging modality. Investigation of the urinary tract, the uterus and the examination of normally developed gonads are possible. Perineal ultrasound provides additional information on the pelvic floor, the bladder neck and urogenital sinus anomalies. Ultrasound is most useful at diagnosis and during follow-up. Magnetic resonance imaging allows complete imaging of the pelvis and abdomen, but motion artefacts and lack of resolution are limiting factors. MRI is a useful technique for adolescents and adults both at diagnosis and during follow-up. Genitoscopy, urethrocystoscopy and laparoscopy require anaesthesia and are useful at the end of the diagnostic evaluation, if biopsies, hernia repairs or gonadectomies are planned. Examples of imaging results in typical clinical situations are discussed.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology