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Clinical genetics of defects in thyroid hormone synthesis

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주제분류소아과학

초록

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

Abstract

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%–15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

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관련 논문AI추천

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital HypothyroidismLiu-Xue Yang, Man-Li Guo, Shao-Gang Ma, Xiao Zheng, Ya-Li Qiu연세대학교의과대학 · Yonsei Medical Journal2017 · 제58권 제4호Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG geneJa-Hyun Jang, Jeesuk Yu, Seung Heo대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2019 · 제24권 제3호DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population김영진, 김종원, 박경진, 박종호, 박준희, 박현경, 박형두, 이경률, 이수연대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제2호Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism김상겸, 오아름, 이지수, 한헌석대한갑상선학회 · International Journal of Thyroidology2022 · 제15권 제1호TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital HypothyroidismCui Ren-Jie, Fang Ya, Li Xue-Song, Song Huai-Dong, Tu Ping-Hui, Wu Chen-Yang, Wu Feng-Yao, Yang Liu, Yang Rui-Meng, Zhang Cao-Xu, Zhang Hai-Yang, Zhao Shuang-Xia대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제4호Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene정소윤, Dong Hwan Lee, Jeongho Lee대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2020 · 제25권 제1호

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