Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Alternate names[edit | edit source]
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[edit | edit source]
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.
Epidemiology[edit | edit source]
It has an annual incidence of 1/100,000-200,000 live births.
Signs and symptoms[edit | edit source]
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[edit | edit source]
This form of CAH is caused by a mutation in the POR gene located on chromosome 7 q11.2.
Inheritance[edit | edit source]
The disease follows an autosomal recessive pattern of inheritance.
NIH genetic and rare disease info[edit source]
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
