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Monogenic disorders of adrenal steroidogenesis
File(s)
000488034.pdf (588.99 KB)
Published version
Author(s)
Baranowski, Elizabeth S
Arlt, Wiebke
Idkowiak, Jan
Type
Journal Article
Abstract
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes the principles of adrenal steroidogenesis, including the newly appreciated 11-oxygenated androgen pathway. This is followed by a description of pathophysiology, biochemistry, and clinical implications of steroidogenic disorders, including mutations affecting cholesterol import and steroid synthesis, the latter comprising both mutations affecting steroidogenic enzymes and co-factors required for efficient catalysis. A good understanding of adrenal steroidogenic pathways and their regulation is crucial as the basis for sound management of these disorders, which in the majority present in early childhood.
Date Issued
2018-07-01
Date Acceptance
2018-02-27
Citation
Hormone Research in Paediatrics, 2018, 89 (5), pp.292-310
URI
URL
DOI
ISSN
1663-2818
Publisher
Karger Publishers
Start Page
292
End Page
310
Journal / Book Title
Hormone Research in Paediatrics
Volume
89
Issue
5
Copyright Statement
© 2018 The Author(s) Published by S. Karger AG, Basel Open Access License / Drug Dosage / Disclaimer This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). Usage and distribution for commercial purposes as well as any distribution of modified material requires written permission.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/29874650
PII: 000488034
Subjects
11-OXYGENATED C19 STEROIDS
3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY
ACUTE-REGULATORY-PROTEIN
Androgen excess
ANTLEY-BIXLER-SYNDROME
CLASSIC 11-BETA-HYDROXYLASE DEFICIENCY
Congenital adrenal hyperplasia
Endocrinology & Metabolism
ISOLATED 17,20-LYASE DEFICIENCY
Life Sciences & Biomedicine
P450 OXIDOREDUCTASE DEFICIENCY
Pediatrics
POLYCYSTIC-OVARY-SYNDROME
Science & Technology
SIDE-CHAIN CLEAVAGE
Steroidogenesis
SUBCUTANEOUS HYDROCORTISONE INFUSION
Publication Status
Published
Coverage Spatial
Switzerland
Date Publish Online
2018-06-06