Journal
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 23, Issue 2, Pages 181-192Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.beem.2008.10.014
Keywords
congenital adrenal hyperplasia; CAH; genetic analysis; CYP21A2; CYP11B1; CYP17A1; HSD3B2; POR
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Funding
- Wellcome Trust Clinician Scientist Fellow
- Medical Research Council Senior Clinical Fellow
- Medical Research Council [G116/172] Funding Source: researchfish
- MRC [G116/172] Funding Source: UKRI
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Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group Of autosomal recessive disorders Caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical phenotype depends oil the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11 beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17 alpha-hydroxylase (CYP17A1) and 3 beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency also impact on gonadal steroid biosynthesis. Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1-CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes. (C) 2008 Elsevier Ltd. All rights reserved.
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