Congenital adrenal hyperplasia
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]; Ammu Susheela, M.D. [3]
Synonyms and keywords: CAH; Adrenogenital syndrome
Overview
Congenital adrenal hyperplasia is a group of autosomal recessive diseases that result from multiple genetic mutations. The genes encode a number of enzymes that mediate the adrenal glands steroidogenesis pathway. As a result, mutations in such genes will result in various enzyme deficiencies that lead to a disequilibrium of the biochemical reactions mediating the production of cortisol, aldesterone, and androgens.[1] The outcome of congenital adrenal hyperplasia is either an excessive or deficient production of the aforementioned hormones, which alters the development of both primary and secondary sex characteristics among affected patients.[2] Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly five subtypes: lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency, congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, and congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Congenital Adrenal Hyperplasia
- The figure below illustrates the biochemical reactions of the adrenal glands steroidogenesis pathway:
Classification
- Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly the following types:
Congenital Adrenal Hyperplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Biochemistry
- The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia:
| Common Medical Term | OMIM Number | Enzyme | Gene location | Substrates | Products |
|---|---|---|---|---|---|
|
|
|
| ||
|
lipoid CAH |
|
|
|
| |
|
|
|
| ||
|
|
|
| ||
|
|
|
Reference
- ↑ David A. Warrell (2005). Oxford textbook of medicine: Sections 18-33. Oxford University Press. pp. 261–. ISBN 978-0-19-856978-7. Retrieved 14 June 2010.
- ↑ Aubrey Milunsky; Jeff Milunsky (29 January 2010). Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons. pp. 600–. ISBN 978-1-4051-9087-9. Retrieved 14 June 2010.