New Genetics in Congenital Hypothyroidism

Overview

Journal Endocrine

Specialty Endocrinology

Date 2021 Mar 2

PMID 33650047

Citations 24

Authors

Athanasia Stoupa

Dulanjalee Kariyawasam

Marina Muzza

Tiziana de Filippis

Laura Fugazzola

Michel Polak

Luca Persani

Aurore Carre

Affiliations

Soon will be listed here.

Abstract

Introduction: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients.

Purpose: The pathogenesis of CH is largely unknown and may include the contribution of individual and environmental factors. During the last years, detailed phenotypic description of patients, next-generation sequence technologies and use of animal models allowed the discovery of novel candidate genes in thyroid development, function and pathways.

Results And Conclusion: We provide an overview of recent genetic causes of primary and central CH. In addition, mode of inheritance and the oligogenic model of CH are discussed.

Citing Articles

Patients with Thyroid Dyshormonogenesis and Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Baz-Redon N, Antolin M, Clemente M, Campos A, Mogas E, Fernandez-Cancio M Int J Mol Sci. 2024; 25(15).

PMID: 39126042 PMC: 11313534. DOI: 10.3390/ijms25158473.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the gene.

Fernandez-Cancio M, Antolin M, Clemente M, Campos-Martorell A, Mogas E, Baz-Redon N Front Endocrinol (Lausanne). 2024; 15:1367808.

PMID: 39040671 PMC: 11260715. DOI: 10.3389/fendo.2024.1367808.

Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.

Park J, Joo E, Yoo M, Kim S, Jang W, Lee J Medicine (Baltimore). 2024; 103(29):e38976.

PMID: 39029043 PMC: 11398833. DOI: 10.1097/MD.0000000000038976.

Revealing the genetic complexity of hypothyroidism: integrating complementary association methods.

Zucker R, Kovalerchik M, Stern A, Kaufman H, Linial M Front Genet. 2024; 15:1409226.

PMID: 38919955 PMC: 11196612. DOI: 10.3389/fgene.2024.1409226.

Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China.

Li M, Wang X, Wang F, Wang F, Zhao D, Liu S Int J Gen Med. 2024; 17:885-894.

PMID: 38468821 PMC: 10926855. DOI: 10.2147/IJGM.S445557.

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