Cytochrome P450 oxidoreductase deficiency

WikiDoc Resources for Cytochrome P450 oxidoreductase deficiency
Articles
Most recent articles on Cytochrome P450 oxidoreductase deficiency Most cited articles on Cytochrome P450 oxidoreductase deficiency Review articles on Cytochrome P450 oxidoreductase deficiency Articles on Cytochrome P450 oxidoreductase deficiency in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Cytochrome P450 oxidoreductase deficiency Images of Cytochrome P450 oxidoreductase deficiency Photos of Cytochrome P450 oxidoreductase deficiency Podcasts & MP3s on Cytochrome P450 oxidoreductase deficiency Videos on Cytochrome P450 oxidoreductase deficiency
Evidence Based Medicine
Cochrane Collaboration on Cytochrome P450 oxidoreductase deficiency Bandolier on Cytochrome P450 oxidoreductase deficiency TRIP on Cytochrome P450 oxidoreductase deficiency
Clinical Trials
Ongoing Trials on Cytochrome P450 oxidoreductase deficiency at Clinical Trials.gov Trial results on Cytochrome P450 oxidoreductase deficiency Clinical Trials on Cytochrome P450 oxidoreductase deficiency at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Cytochrome P450 oxidoreductase deficiency NICE Guidance on Cytochrome P450 oxidoreductase deficiency NHS PRODIGY Guidance FDA on Cytochrome P450 oxidoreductase deficiency CDC on Cytochrome P450 oxidoreductase deficiency
Books
Books on Cytochrome P450 oxidoreductase deficiency
News
Cytochrome P450 oxidoreductase deficiency in the news Be alerted to news on Cytochrome P450 oxidoreductase deficiency News trends on Cytochrome P450 oxidoreductase deficiency
Commentary
Blogs on Cytochrome P450 oxidoreductase deficiency
Definitions
Definitions of Cytochrome P450 oxidoreductase deficiency
Patient Resources / Community
Patient resources on Cytochrome P450 oxidoreductase deficiency Discussion groups on Cytochrome P450 oxidoreductase deficiency Patient Handouts on Cytochrome P450 oxidoreductase deficiency Directions to Hospitals Treating Cytochrome P450 oxidoreductase deficiency Risk calculators and risk factors for Cytochrome P450 oxidoreductase deficiency
Healthcare Provider Resources
Symptoms of Cytochrome P450 oxidoreductase deficiency Causes & Risk Factors for Cytochrome P450 oxidoreductase deficiency Diagnostic studies for Cytochrome P450 oxidoreductase deficiency Treatment of Cytochrome P450 oxidoreductase deficiency
Continuing Medical Education (CME)
CME Programs on Cytochrome P450 oxidoreductase deficiency
International
Cytochrome P450 oxidoreductase deficiency en Espanol Cytochrome P450 oxidoreductase deficiency en Francais
Business
Cytochrome P450 oxidoreductase deficiency in the Marketplace Patents on Cytochrome P450 oxidoreductase deficiency
Experimental / Informatics
List of terms related to Cytochrome P450 oxidoreductase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body.

Pathophysiology

Genetics

Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body's response to stress; and aldosterone, which helps regulate the body's salt and water balance.

Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. Studies suggest that these abnormalities may be related, at least in part, to the abnormal production of cholesterol. Cholesterol is a substance that is altered to produce steroid hormones. It is necessary for normal embryonic development and is involved in bone formation.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Severe cases of cytochrome P450 oxidoreductase deficiency are often given the name Antley-Bixler syndrome.

Epidemiology and Demographics

Prevalence

The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 60 affected individuals have been reported worldwide.

Diagnosis

Symptoms

• Infertility
• Joint contractures

Physical Examination

Head

• Craniosynostosis
• Flattened mid-face
• Prominent forehead

Ears

• Low-set ears

Nose

• Choanal atresia

Genitalia

• Ambiguous genitalia

Extremities

• Joint contractures
• Radiohumeral synostosis

Neurologic

• Intellectual disability