Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
Shaunak M, Taylor NF, Hunt D, Davies JH.
Horm Res Paediatr. 2020;93(7-8):483-496. doi: 10.1159/000512372. Epub 2021 Feb 24.
PMID:33626548
Successful Delivery in 17,20-Lyase Deficiency.
Blumenfeld Z, Koren I.
J Clin Endocrinol Metab. 2021 Jun 16;106(7):1882-1886. doi: 10.1210/clinem/dgab222.
PMID:33824988
Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency.