Autor: Kam Chan

Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population

Feb 4, 2026

—

por

Kam Chan

en Articulos, Enfermedades Raras, Frontiers in Genetics, Original Research

ObjectiveRare subtypes of congenital adrenal hyperplasia (CAH) often present with heterogeneous and overlapping clinical features, leading to substantial diagnostic delays and misclassification. This study aimed to characterize the clinical, biochemica…