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Article

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

European journal of endocrinology - 1 Jun 2011

Berra Marta, Williams Emma L, Muroni Barbara, Creighton Sarah M, Honour John W, Rumsby Gill, Conway Gerard S

Abstract excerpt

CONTEXT: The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is poorly characterised. The ratios of 5α/5β-reduced metabolites of adrenal steroids in a urine steroid profile (USP) can give an indication of SRD5A2 deficiency, although the diagnostic cut-off for 5α/5β rati...

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Source

Identifiers

PMID: 21402750
DOI: 10.1530/EJE-10-0930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21402750-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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