Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.

ABSTRACT:

Objective

This study aimed to investigate the clinical, steroid hormones and genetic characteristics of Chinese children with 21-hydroxylase deficiency (21OHD).

Methods

This retrospective study included 115 children with 21OHD. Clinical data, steroid hormone levels, and genetic information were collected for overall and subgroup analyses. Clinical and steroid hormone characteristics were compared across clinical phenotypes and by sex. Within the salt-wasting (SW) group, characteristics were also compared between newborn screening (NBS)-diagnosed and clinically diagnosed patients. The relationship between Prader scores and both clinical phenotype and steroid hormone levels was analyzed, and the genotype-phenotype correlation, variation frequency and CAH-X CH-1 incidence were

SUBMITTER: Chong H 

PROVIDER: S-EPMC12571618 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature