Congenital adrenal hyperplasia
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
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 |