Characterization of the CYP11A1 Non-synonymous Variant p.E314K in Children Presenting with Adrenal Insufficiency.

Conclusions: The CYP11A1 p.E314K variant impairs P450scc stability and is a possible cause of PAI during childhood. Pathogenic CYP11A1 variants potentially impact both adrenal and gonadal function and males may develop TART. PMID: 30299480 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30299480?dopt=Abstract

Source: The Journal of Clinical Endocrinology and Metabolism - October 8, 2018 Category: Endocrinology Authors: Kolli V, Kim H, Torky A, Lao Q, Tatsi C, Mallappa A, Merke DP Tags: J Clin Endocrinol Metab Source Type: research