Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series

This study presents the diagnostic and treatment experiences of three Chinese pediatric patients with AME type I. Through our analysis, four novel variants of the <i>HSD11B2</i> gene were identified, thereby enhancing the genotype-phenotype spectrum associated with AME. Early genetic testing in patients suspected of having AME is beneficial for facilitating prompt diagnosis and the implementation of standardized treatment protocols. Such measures are essential for the prevention or mitigation of target organ damage, as well as for the reduction of associated morbidity and mortality.