congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare form of congenital adrenal hyperplasia (CAH). It is characterized by a deficiency in glucocorticoids, which are important hormones for many body functions. This condition can also cause severe sexual ambiguity in both sexes as well as skeletal malformations, especially of the craniofacial region. It is part of a group of conditions where the body does not produce steroid hormones in the usual way, leading to a variety of clinical features.

People with this condition often have low levels of glucocorticoids. They may also show signs of ambiguous sexual development and differences in bone structure, particularly in the face and skull. These symptoms are part of the condition’s distinct presentation.

This condition is caused by changes in the POR gene, which is responsible for making the enzyme cytochrome P450 oxidoreductase. The deficiency in this enzyme disrupts normal steroid hormone production, leading to the hormonal imbalances and physical differences seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.