Cytochrome P450 oxidoreductase deficiency

Revision as of 20:22, 13 August 2012 by Raviteja Reddy Guddeti (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

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

Physical Examination

Head

Ears

Nose

Genitalia

Extremities

Neurologic

  • Intellectual disability

References