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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency – The next disease included in the neonatal screening program in poland Cover

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency – The next disease included in the neonatal screening program in poland

Open Access
|Jun 2018

Figures & Tables

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;
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
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
DOI: https://doi.org/10.34763/devperiodmed.20182202.197200 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 197 - 200
Submitted on: Mar 20, 2018
Accepted on: May 7, 2018
Published on: Jun 30, 2018
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2018 Maria Ginalska-Malinowska, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.