ESPE Abstracts

Background: A recent report (JCI, 2014) described a new homozygous NR5A1/SF-1 mutation in a patient with XY DSD and spleen agenesis. To date, no other data have confirmed this association, raising the hypothesis of fortuity.Case presentation and method: We had the opportunity to study an adolescent girl referred for virilisation during puberty. She presented voice deepening and clitoral hypertrophy. Biological investigations showed high plasma testostero...