Congenital adrenal hyperplasia

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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:


Production of DHEA from Cholesterol. (Cortisol is a glucocorticoid.)

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

21-hydroxylase CAH

Online 'Mendelian Inheritance in Man' (OMIM) 201910
P450c21
6p21.3
17OH-progesterone→
Progesterone
11-deoxycortisol→
DOC

lipoid CAH
(20,22-desmolase)

Online 'Mendelian Inheritance in Man' (OMIM) 201710
StAR
P450scc
8p11.2
15q23-q24
Transport of cholesterol
cholesterol
Into mitochondria→
Pregnenolone

17α-hydroxylase CAH

Online 'Mendelian Inheritance in Man' (OMIM) 202110
P450c17
10q24.3
pregnenolone
progesterone
17OH-pregnenolone→
17OH-pregnenolone
17OH-progesterone
DHEA

3β-HSD CAH

Online 'Mendelian Inheritance in Man' (OMIM) 201810
3βHSD II
1p13
Pregnenolone
17OH-pregnenolone→
DHEA
Progesterone
17OH-progesterone
androstenedione

11β-hydroxylase CAH

Online 'Mendelian Inheritance in Man' (OMIM) 202010
P450c11β
8q21-22
11-deoxycortisol→
DOC→
Cortisol
Corticosterone

Reference

  1. David A. Warrell (2005). Oxford textbook of medicine: Sections 18-33. Oxford University Press, 261–. ISBN 978-0-19-856978-7. Retrieved on 14 June 2010. 
  2. (29 January 2010) Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons, 600–. ISBN 978-1-4051-9087-9. Retrieved on 14 June 2010. 

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