Evidence map›Paper›PMID 41334443›Full record

ArticleFrontiers in endocrinology2025

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

Yinhong Zhang, Shiyu Wang, Aoyu Li, Wenjing Zhao, Fengyu Xia, Ying Chan, Junyue Lin, Xiaoyan Zhou, Suyun Li, Na Feng and 2 more

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Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Yinhong ZhangDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Shiyu WangSchool of Medicine, Kunming University of Science and Technology, Kunming, China.
Aoyu LiSchool of Medicine, Kunming University of Science and Technology, Kunming, China.
Wenjing ZhaoDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Fengyu XiaDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Ying ChanDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Junyue LinDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Xiaoyan ZhouDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Suyun LiDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Na FengDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Baosheng ZhuDepartment of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The Afliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.
Li LiDepartment of Pediatrics, The Affiliated Hospital of Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 the 117 CH patients, 91 carried gene variations related to CH, yielding a detection rate of 77.8%. Notably, variations in Conclusions: This study provides valuable insights into the genetic landscape of CH in Yunnan Province, highlighting the importance of genes associated with thyroid dyshormonogenesis. Genotype cannot effectively be used to predict CH phenotype and prognosis. Standardized treatment and follow-up are crucial for positive outcomes in CH children.

Indexed as

Congenital HypothyroidismMutationChildChild, PreschoolChinaDual OxidasesFemaleFollow-Up StudiesGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMaleMembrane ProteinsDual OxidasesDUOX2 protein, humanDUOXA2 protein, humanMembrane ProteinsTG protein, humanThyroglobulinclinical outcomecongenital hypothyroidismgenotype-phenotypenext-generation sequencingthyroid hormonethyroid morphology

Identifiers

PMID41334443
PMCPMC12666528

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