hrp0082wg3.5 | DSD | ESPE2014

Imaging of the Urogenital Tract

Wunsch Lutz

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...

hrp0089p1-p218 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Primary Gonadal Dysgenesis in Male 46,XY Patients with NR5A1 Variants Predominantly Affects Sertoli Cell Function

Hoppmann Julia , Werner Ralf , Lunstedt Ralf , Birnbaum Wiebke , Schwab Otfried , Marshall Louise , Wunsch Lutz , Hiort Olaf

Background: Steroidogenic factor 1 (encoded by the NR5A1 gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 are associated with a wide phenotypic spectrum in 46,XY individuals ranging from partial/complete gonadal dysgenesis or anorchia, ambiguous genitalia, hypospadias, to infertility. However, little is known about the longitudinal course of endocrine markers for Sertoli and Leydig cell func...