Endocrine Abstracts

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 Pakistan demonstrated a high testosterone and ‘small ovaries and uterus’. She underwent removal of a possible testicle to her right labia majora and a ‘rudimentary uterus’. Following surgery she did not receive ongoing medical care. She had a socially difficult adolescence, and moved to the United Kingdom aged 28. At presentation to Endocrinology she had a blind-ending vagina, clitoromegaly, and minimal breast tissue. Hormonal evaluation reflected primary hypogonadism. Chromosomal analysis demonstrated an 46 XY karyotype. Urinary steroid profile indicated 5-alpha-reductase deficiency with reduced androsterone at 194 ug/24h (mean 1526 ug/24h) and increased aetiocholanolone at 3124 ug/24h (mean 1308 ug/24h). Analysis of the SRD5A2 gene revealed a homozygous point mutation for c.698+1G>T at the exon 4/intron 4 boundary. Result Normal range (male) Testosterone (nmol/L) 1.5 8.4–28.7 SHBG (nmol/L) 77.4 13–71 Oestrodiol (pmol/L)