Searchable abstracts of presentations at key conferences in endocrinology

ea0062oc1 | Oral Communications | EU2019

Virilisation at puberty – a new subtype in the spectrum of NR5A1 mutations

Attard Carol Cardona , Atakan Sanem , Finill Caroline , Williams Louise , Creighton Sarah , Abid Noina , Conway Gerard

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...