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Article

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Mar 2011

Idkowiak Jan, O'Riordan Stephen, Reisch Nicole, Malunowicz Ewa M, Collins Felicity, Kerstens Michiel N, Köhler Birgit, Graul-Neumann Luitgard Margarete, Szarras-Czapnik Maria, Dattani Mehul, Silink Martin, Shackleton Cedric H L, Maiter Dominique, Krone Nils, Arlt Wiebke

Abstract excerpt

CONTEXT: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes,...

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Identifiers

PMID: 21190981
DOI: 10.1210/jc.2010-1607
PMCID: PMC3124345

Genes

POR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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