Update on adrenal steroid hormone biosynthesis and clinical implications.
21-hydroxylase deficiency
adrenal steroid biosynthesis
congenital adrenal hyperplasia
steroid hormones
Journal
Archives of disease in childhood
ISSN: 1468-2044
Titre abrégé: Arch Dis Child
Pays: England
ID NLM: 0372434
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
14
03
2019
revised:
16
04
2019
accepted:
23
04
2019
pubmed:
9
6
2019
medline:
17
4
2020
entrez:
9
6
2019
Statut:
ppublish
Résumé
Steroid biosynthesis is a complex process in which cholesterol is converted to steroid hormones with the involvement of multiple enzymes and cofactors. Inborn conditions affecting adrenal steroidogenesis are relatively common in paediatric practice and have serious implications on patient mortality and morbidity. This paper provides an overview of novel insights into human adrenal steroid biosynthesis. Inborn errors of steroidogenesis associated with congenital adrenal hyperplasia are discussed, with a particular focus on the pathophysiology and clinical features of 21-hydroxylase deficiency. The final section of the review presents more recent findings and clinical implications of adrenal-specific androgen biosynthesis.
Identifiants
pubmed: 31175123
pii: archdischild-2017-313873
doi: 10.1136/archdischild-2017-313873
doi:
Substances chimiques
Glucocorticoids
0
Steroids
0
Steroid 21-Hydroxylase
EC 1.14.14.16
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1223-1228Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.