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Article

Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.

Frontiers in endocrinology - 1 Jan 2026

Zhang Chen, Zhao Zhanbo, Du Yi, Huang Qi, Liu Yushu, Fu Gubing, Xu Jianglong

Abstract excerpt

Background: Cytochrome P450 oxidoreductase deficiency (PORD) is an ultra-rare autosomal recessive disorder caused by mutations in the POR gene and characterized by highly heterogeneous skeletal, genital, and endocrine manifestations. Owing to this complexity, PORD remains frequently underrecognized in clinical practice, and integrated clinical-genetic syntheses remain limited. Methods: A retrospective analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42039121
DOI: 10.3389/fendo.2026.1791297
PMCID: PMC13105989

Genes

POR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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