Endocrine Abstracts

Introduction: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD), large CyP21A2 deletions can also affect the adjacent tenascin-X (TNXB) gene. In patients with or without 21-OHD, pathogenic variants in the TNXB gene cause Ehlers-Danlos syndrome (EDS), a connective tissue dysplasia associated with cardiovascular complications. CAH in conjunction with TNXB-dependent EDS has been termed CAH-X. This study aims to c...