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Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Jul 2025

Zhang Duoduo, Ding Leilei, Deng Shan, Tian Qinjie

Abstract excerpt

P450 oxidoreductase deficiency (PORD) affects cytochrome enzyme activities, causing various symptoms, such as adrenal insufficiency, disorders of sex development and skeletal malformations. This study aims to elucidate the clinical manifestations, genotype characteristics, diagnosis and management of 46,XX karyotype patients with PORD in China. A retrospective study included twelve 46,XX PORD patients in a...

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PMID: 40533672
DOI: 10.1007/s43032-025-01878-8

Genes

POR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.PMID 40533672Read ↗

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