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20.09.2022 | Original Article

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism

verfasst von: Liangshan Li, Xiaole Li, Xiaoyu Wang, Mengmeng Han, Dehua Zhao, Fang Wang, Shiguo Liu

Erschienen in: Endocrine

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Abstract

Background

Congenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short stature if left untreated. It can be divided into thyroid dysgenesis (TD), including athyreosis, ectopy and hypoplasia, and dyshormonogenesis (DH), also referring to gland in situ (GIS), in which patients have eutopic thyroids with normal size or goiter. This study aims to analyze the clinical and genetic data of 375 Chinese CH patients without DUOX2 and thyroid transcription factor (TTF) variants, and to explore the mutation frequencies of the eight genes and the inheritance pattern of CH.

Methods

Targeted next generation sequencing (NGS) and statistical analysis were performed for mutation screening on eight CH-related genes and the comparison of clinical data in a cohort of 606 Chinese CH patients from Henan Province.

Results

A total of 104 variants were detected in genes required for thyroid formation (TSHR, GLIS3, BOREALIN, NTN1, JAG1 and TUBB1) and thyroid hormone synthesis (TG and TPO) in 83 subjects. Monogenic variants were the most prevalent with a percentage of 75.00% (78/104) followed by oligogenic variants (25.00%, 26/104). No differences were found in various clinical data between patients with and without variants. However, it should be noted that only initial L-T4 dose was statistically different between patients with monogenic variants and oligogenic variants.

Conclusions

Our results suggested that apart from Mendelian monogenic inheritance, oligogenic inheritance of CH could not be excluded and also involves other factors, such as penetrance, epigenetic mechanisms and environmental factors.
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Literatur
Metadaten
Titel
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
verfasst von
Liangshan Li
Xiaole Li
Xiaoyu Wang
Mengmeng Han
Dehua Zhao
Fang Wang
Shiguo Liu
Publikationsdatum
20.09.2022
Verlag
Springer US
Erschienen in
Endocrine
Print ISSN: 1355-008X
Elektronische ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-022-03188-4

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