ESPE Abstracts

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...

Steroidogenic factor-1 (SF1), encoded by plays a central role in sex development, steroidogenesis, and reproduction in both males and females. NR5A1 mutations have been described in a diverse spectrum of disorders of sex development (DSD). We report on a case of XY Partial Gonadal Dysgenesis with paternal inheritance of a NR5A1 variant. A 17-year-old girl was referred to us due to primary amenorrhea and absence of secondary female sex characteristics. She was...