Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

The Journal of clinical endocrinology and metabolism - 1 Dec 2009

Sahakitrungruang Taninee, Huang Ningwu, Tee Meng Kian, Agrawal Vishal, Russell William E, Crock Patricia, Murphy Nuala, Migeon Claude J, Miller Walter L

Abstract excerpt

CONTEXT: P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility. OBJECTIVE: We describe four patients with POR deficiency and identify and characterize the activities of their mutations. A 46,XY male with micropenis and two 46,XX female...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytochromes c
Share to Disorders of Sex Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genitalia

Share to Hormones

Share to Infertility

Share to NADPH-Ferrihemoprotein Reductase

Share to Steroid 17-alpha-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 19837910
DOI: 10.1210/jc.2009-1460
PMCID: PMC2795645

Genes

POR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.PMID 19837910Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.Semantic proximity Read ↗

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.Semantic proximity Read ↗

Consequences of POR mutations and polymorphisms.Semantic proximity Read ↗

Clinical and biochemical consequences of p450 oxidoreductase deficiency.Semantic proximity Read ↗

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.Semantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46, XX Patient with R550W Mutation in <em>POR</em>: Expanding the PORD PhenotypeSemantic proximity Read ↗

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.Semantic proximity Read ↗

Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing : Overall analysis of a female with POR deficiency.Semantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.Semantic proximity Read ↗

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.