ESPE Abstracts

We present the case of a 15-year-old girl who presented with primary amenorrhoea. On examination she had absent pubertal development (Tanner Stage B1), with a normal-appearing external vagina and vaginal opening. Investigations demonstrated elevated gonadotropins, concerning for primary gonadal failure. Pelvic ultrasound and MRI demonstrated the presence of a rudimentary uterus and the absence of visible gonads. Karyotype confirmed 46 XY. Trio exome sequencing identified a mis...