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Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
It has an annual incidence of 1/100,000-200,000 live births.
Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears and other features similar to those seen in Antley-Bixler syndrome (see this term).
This form of CAH is caused by a mutation in the POR gene located on chromosome 7 q11.2.
The disease follows an autosomal recessive pattern of inheritance.
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