Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [Supplementary Concept]
Congenital adrenal hyperplasia that results from a deficiency in one or another of the enzymes of CORTISOL biosynthesis. In most cases, 21-hydroxylation is impaired in the ZONA FASCICULATA of the ADRENAL CORTEX so that 17-HYDROXYPROGESTERONE (17-OHP) is not converted to 11-DEOXYCORTISOL. This causes excessive production of ANDROGENS and VIRILIZATION. Caused by germline mutations in the CYP21A2 gene. OMIM: 201910
Date introduced: August 25, 2010
MeSH Unique ID: C535979
Heading Mapped to:
Entry Terms:
- Adrenal hyperplasia III
- CYP21 deficiency
- Congenital adrenal hyperplasia 1
- 21 hydroxylase deficiency
- 21 alpha hydroxylase deficiency
- 21-Hydroxylase Deficiency
- Late-onset congenital adrenal hyperplasia
- Non classic congenital adrenal hyperplasia
- NCCAH
- Attenuated congenital adrenal hyperplasia
- LOCAH