Congenital adrenal hyperplasia: Difference between revisions
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==Congenital Adrenal Hyperplasia== | ==Congenital Adrenal Hyperplasia== | ||
[[Image:DHEA1_svg.png|thumb|center|800px|Production of DHEA from Cholesterol. ([[Cortisol]] is a [[glucocorticoid]].)]] | [[Image:DHEA1_svg.png|thumb|center|800px|Production of DHEA from Cholesterol. ([[Cortisol]] is a [[glucocorticoid]].)]] | ||
===Biochemistry=== | ===Classification=== | ||
* [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]] | |||
* [[Lipoid congenital adrenal hyperplasia]] | |||
* [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency]] | |||
* [[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency]] | |||
* [[Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency|Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency]] | |||
====Biochemistry==== | |||
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Revision as of 16:48, 21 January 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]
Overview
Congenital Adrenal Hyperplasia
Classification
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Lipoid congenital adrenal hyperplasia
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Biochemistry
| Common medical term | OMIM no. | Enzyme(s) | Gene location | Substrate(s) | Product(s) |
| 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 |