Searchable abstracts of presentations at key conferences in endocrinology

ea0028p24 | Clinical biochemistry | SFEBES2012

Urine steroid profiling for diagnosis of 5α-reductase type 2 deficiency

West Charles , Vincent Royce , Moniz Caje , Chan Angel , Hughes Ieuan , Christakoudi Sofia , Taylor Norman

Background: 5α-Reductase type 2 deficiency (5ARD) is caused by mutations in the SRD5A2 gene. Inadequate masculinisation in XY individuals results from failure to convert testosterone (T) to dihydrotestosterone (DHT), a potent androgen. A decreased serum T:DHT ratio is frequently taken to identify 5ARD, but requires hCG stimulation for prepubertal patients; findings are not always supported by genotyping. Urine steroid profiling (USP) by GC-MS is established as showing sig...