Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

POR, FGFR2, CYP2B6, CYP26A1, HMOX1, STATH

Drugs

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN )

Adeno-associated viral vector expressing human 21-hydroxylase, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN ), Nevanimibe, Prasterone, Pyrazolo[1,5-a]pyrimidine, 3-[4-chloro-2-(4-morpholinyl)-5-thiazolyl]-7-(1-ethylpropyl)-2,5-dimethyl-pyrazolo[1,3-a]pyrimidine

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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.

Epidemiology

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

Clinical description

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).

Etiology

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

Genetic counseling

The disease follows an autosomal recessive pattern of inheritance.