ESPE Abstracts

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...

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...