The broad phenotypic spectrum of 17 α-hydroxylase/ 17,20-lyase (CYP17A1) deficiency: a case series

CONCLUSION: Our findings illustrate the broad phenotypic spectrum of 17OHD. Isolated sex steroid deficiency with normal stimulated cortisol have not been reported before. Attenuation of 17α-hydroxylase activity is readily detected by urinary steroid profiling and predicts phenotype severity.PMID:34524979 | DOI:10.1530/EJE-21-0152

Source: European Journal of Endocrinology - September 15, 2021 Category: Endocrinology Authors: Min Sun Jonathan W Mueller Lorna C Gilligan Angela E Taylor Fozia Shaheen Anna Noczynska Guy T'Sjoen Louise Denvir Savitha Shenoy Piers Fulton Timothy D Cheetham Helena Gleeson Mushtaqur Rahman Nils P Krone Norman F Taylor Cedric H L Shackleton Wiebke Arl Source Type: research