Searchable abstracts of presentations at key conferences in endocrinology

ea0059ep93 | Reproduction | SFEBES2018

The challenge of diagnosing 5-alpha-reductase deficiency post gonadectomy

Miles Stephanie , Shears Deborah , Shine Brian , Grossman Ashley , Pal Aparna

A 35 year old woman was referred to Endocrinology after imaging investigating unexplained pyrexia demonstrated an absent uterus. She was of Pakistani origin and was born phenotypically female with reported normal female genitalia. During late teenage years she experienced virilisation with deepening voice, increased pubic and axillary hair and clitoromegaly. She had absent breast development. Her parents were first cousins and siblings were unaffected. Investigations in Pakist...