Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency – The next disease included in the neonatal screening program in poland
Publié en ligne: 30 juin 2018
Pages: 197 - 200
Reçu: 20 mars 2018
Accepté: 07 mai 2018
© 2018 Maria Ginalska-Malinowska, published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Fig. 1
Schematic diagram of adrenal steroidogenesis Steroidogenic enzymes (in frames):
StAR - steroidogenic acute regulatory protein
17-OH - 17α-hydroxylase/17,20-lyase
3β-HSD - 3β-hydroxysteroid dehydrogenase
21-OH - 21-hydroxylase
11-OH - 11β-hydroxylase
AS - aldosterone synthase
17β-HSD - 17β-hydroxysteroid dehydrogenase
Hormones: DOC - 11-deoxyorticosterone;
DHEA – dehydroepiandrosterone;
Ryc. 1. Schemat steroidogenezy nadnerczowej
Enzymy steroidogenezy (w ramkach):
StAR - steroidowe ostre białko regulatorowe
17-OH - 17α-hydroksylaza/17,20-liaza
3β-HSD - dehydrogenaza 3β-hydroksysteroidowa
21-OH - 21-hydroksylaza
11-OH - 11β-hydroksylaza
AS - syntaza aldosteronowa
17β-HSD - dehydrogenaza 17β-hydroksysteroidowa
Hormony: DOC - 11-deoksykortykosteron;
DHEA – dehydroepiandrosteron;Fig. 2
Schematic diagram of adrenal steroidogenesis in 21-hydroxylase deficiency
Steroidogenic enzymes (in frames):
StAR - steroidogenic acute regulatory protein
17-OH - 17α-hydroxylase/17,20-lyase
3β-HSD - 3β-hydroxysteroid dehydrogenase
21-OH - 21-hydroxylase
11-OH - 11β-hydroxylase
AS - aldosterone synthase
17β-HSD - 17β-hydroxysteroid dehydrogenase
Hormones: DOC - 11-deoxyorticosterone;
DHEA – dehydroepiandrosterone
Ryc. 2. Schemat steroidogenezy nadnerczowej przy niedoborze 21-hydroksylazy
Enzymy steroidogenezy (w ramkach):
StAR - steroidowe ostre białko regulatorowe
17-OH - 17α-hydroksylaza/17,20-liaza
3β-HSD - dehydrogenaza 3β-hydroksysteroidowa
21-OH - 21-hydroksylaza
11-OH - 11β-hydroksylaza
AS - syntaza aldosteronowa
17β-HSD - dehydrogenaza 17β-hydroksysteroidowa
Hormony: DOC - 11-deoksykortykosteron;
DHEA – dehydroepiandrosteron