Martinková J

No ORCID on file · 1 paper in corpus
case-report 2026
Frontiers in pediatrics ·doi:10.3389/fped.2026.1946666

BackgroundSteroidogenic factor 1 (SF-1), encoded by the NR5A1 gene, is a critical transcriptional regulator of adrenal and gonadal development. Pathogenic NR5A1 variants lead to a broad phenotypic spectrum characterized by insufficient viri…