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Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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Alternate names

POR deficiency; Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; Disordered steroidogenesis due to cytochrome P450 oxidoreductase; Adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency; disordered steroidogenesis due to por deficiency.

Clinical features

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; ) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

Autosomal recessive inheritance, a 25% chance

Epidemiology

It has an annual incidence of 1/100,000-200,000 live births.

Signs and symptoms

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 .

Cause

This form of CAH is caused by a mutation in the POR gene located on chromosome 7 q11.2.

Inheritance

The disease follows an autosomal recessive pattern of inheritance.

NIH genetic and rare disease info

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare disease.

External links

Wikipedia
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