hrp0097p2-76 | Adrenals and HPA Axis | ESPE2023

The genotype-phenotype correlations in patients with 21-hydroxylase deficiency in Henan, China and the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype

Yang Haihua , Wei Haiyan , Huang Ai , Chen Yongxing , Li Yangshiyu

Purpose: Identify CYP21A2 gene variants in pediatric patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from Henan, China, and to analyze genotype-phenotype correlations. We also analyze the relationship between the clinically effective dosage of hydrocortisone and CYP21A2 genotype.Materials/Methods:A total of 214 21-OHD children were recruited in Henan children's hospital from 2008 to 202...