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Journal of Mother and Child
Volume 22 (2018): Numero 2 (June 2018)
Accesso libero
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency – The next disease included in the neonatal screening program in poland
Maria Ginalska-Malinowska
Maria Ginalska-Malinowska
| 30 giu 2018
Journal of Mother and Child
Volume 22 (2018): Numero 2 (June 2018)
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CONDIVIDI
Pubblicato online:
30 giu 2018
Pagine:
197 - 200
Ricevuto:
20 mar 2018
Accettato:
07 mag 2018
DOI:
https://doi.org/10.34763/devperiodmed.20182202.197200
© 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