Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

MONDO:0013310

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.

Also known as: POR deficiency, PORD, congenital adrenal hyperplasia due to cytochrome POR deficiency, adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency, disordered steroidogenesis due to POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase, disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency

3 clinical trials for this condition and its sub-types, 1 tagged with Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency itself.

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Where it sits in the disease tree

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↑ Reproductive system disorder (8559) ↑ Congenital adrenal hyperplasia (38)

Including sub-types (3) Tagged with Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (1)

Completed 1

Rare enzyme Disorder's blood pressure mystery probed

Knowledge-focused Completed

This completed study investigated why patients with Cytochrome P450 Oxidoreductase (POR) deficiency, a rare genetic condition, often develop high blood pressure and blood vessel damage. Researchers compared 51 participants (patients and healthy controls) using 24-hour blood press…

Sponsor: Ozge Bayrak Demirel • Aim: Knowledge-focused

Last updated Jun 26, 2026 14:41 UTC

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Where it sits in the disease tree

Rare enzyme Disorder's blood pressure mystery probed