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. Pandey is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Cytochrome P450 Oxidoreductase Deficiency, Congenital Lipoid Adrenal Hyperplasia, Congenital Adrenal Hyperplasia (CAH), and Intersex.
Wiebke Arlt practices in Basel, Switzerland. Arlt is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. They are also highly rated in 38 other conditions, according to our data. Their top areas of expertise are Ovarian Overproduction of Androgens, Intersex, Congenital Adrenal Hyperplasia (CAH), Hormone Replacement Therapy (HRT), and Orchiectomy.
Maki Fukami practices in Tokyo, Japan. Fukami is rated as an Elite expert by MediFind in the treatment of Cytochrome P450 Oxidoreductase Deficiency. They are also highly rated in 73 other conditions, according to our data. Their top areas of expertise are Russell-Silver Dwarfism, Intersex, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS).
Published Date: March 01, 2014Published By: National Institutes of Health