Cytochrome P450 Oxidoreductase Deficiency Overview
Learn About Cytochrome P450 Oxidoreductase Deficiency
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. These signs and symptoms are usually present at birth or become apparent in early childhood.
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.
The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide.
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.
Amit Pandey practices in Bern, Switzerland. Mr. Pandey and is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. His top areas of expertise are Cytochrome P450 Oxidoreductase Deficiency, Congenital Lipoid Adrenal Hyperplasia, Aromatase Deficiency, and Congenital Adrenal Hyperplasia (CAH).
Wiebke Arlt practices in London, United Kingdom. Arlt and is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. Their top areas of expertise are Addison's Disease, Ovarian Overproduction of Androgens, Congenital Adrenal Hyperplasia (CAH), Hormone Replacement Therapy (HRT), and Orchiectomy.
Jan Idkowiak practices in Birmingham, United Kingdom. Idkowiak and is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. Their top areas of expertise are Ovarian Overproduction of Androgens, Cytochrome P450 Oxidoreductase Deficiency, Familial Glucocorticoid Deficiency, and Intersex.
Summary: This study investigates the etiology of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency. The study involves comparing ambulatory blood pressure monitoring (ABPM), endothelial biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide levels), and capillaroscopy findings between POR deficiency patients and healthy controls.
Summary: This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome...
Published Date: March 01, 2014
Published By: National Institutes of Health