Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.

ABSTRACT:

Context

Congenital hypothyroidism (CH) is a congenital endocrine disorder with diverse clinical presentations. The genotype-phenotype relationship has recently become a focal point in genetic etiology research on CH.

Objective

To explore the correlation between genetic variants and the clinical and biochemical characteristics of patients with CH in Yunnan Province, Southwest China.

Methods

A retrospective analysis of 117 Yunnan-origin CH patients was conducted. Target regions capture next-generation sequencing (NGS) was used to screen for variations in all exons and their exon-intron boundaries in 27 CH-related genes. Patients were categorized into groups based on genetic variations; clinical outcomes were assessed through standardized follow-up.

Results

Among

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC12666528 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature