The broad phenotypic spectrum of 17alpha-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
Sun M, Mueller JW, Gilligan LC, Taylor AE, Shaheen F, Noczyńska A, T'Sjoen G, Denvir L, Shenoy S, Fulton P, Cheetham TD, Gleeson H, Rahman M, Krone NP, Taylor NF, Shackleton CHL, Arlt W, Idkowiak J.
Sun M, et al.
Eur J Endocrinol. 2021 Oct 11;185(5):729-741. doi: 10.1530/EJE-21-0152.
Eur J Endocrinol. 2021.
PMID: 34524979
Free PMC article.
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. .. …
CONTEXT: 17alpha-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adre …