Cytochrome P450 Oxidoreductase Deficiency Latest Advances

Find the Latest Research About Cytochrome P450 Oxidoreductase Deficiency

Last Updated: 06/30/2026

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Found 110 publications

Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.

Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.

Journal: Frontiers in endocrinology
Published: February 09, 2026

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

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

Journal: Frontiers in endocrinology
Published: January 19, 2026

Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.

Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.

Journal: International journal of women's health
Published: November 15, 2025

Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report.

Sixteen Years of Clinical Data Including Genetic Analysis to Explain Delayed Puberty in a Chinese Boy with 21-Hydroxylase Deficiency: A Case Report.

Journal: Hormone research in paediatrics
Published: October 17, 2025

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

Journal: The Journal of clinical endocrinology and metabolism
Published: September 10, 2025

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

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

Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: August 08, 2025

Asthenozoospermia in a 51-year-old patient with cytochrome P450 oxidoreductase deficiency.

Asthenozoospermia in a 51-year-old patient with cytochrome P450 oxidoreductase deficiency.

Journal: Internal medicine journal
Published: June 04, 2025

CYP51A1 in health and disease: from sterol metabolism to regulated cell death.

CYP51A1 in health and disease: from sterol metabolism to regulated cell death.

Journal: Cell death discovery
Published: May 01, 2025

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.

Journal: Journal of mass spectrometry and advances in the clinical lab
Published: March 26, 2025

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

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

Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: November 14, 2024

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Journal: Frontiers in endocrinology
Published: May 21, 2023

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Journal: Frontiers in endocrinology
Published: August 16, 2022
Showing 1-12 of 110

Last Updated: 06/30/2026