Carla Bizzarri, Germana Antonella Giannone, Jacopo Gervasoni, Sabina Benedetti, Federica Albanese, Luca Dello Strologo, Isabella Guzzo, Mafalda Mucciolo, Francesca Diomedi Camassei, Francesco Emma, Marco Cappa, Ottavia Porzio
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and magnetic resonance imaging showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone was increased up to 285 ng/dL at Tanner stage 3...
August 23, 2021: Journal of Clinical Research in Pediatric Endocrinology