Ann Pediatr Endocrinol Metab.  2018 Dec;23(4):169-175. 10.6065/apem.2018.23.4.169.

Clinical genetics of defects in thyroid hormone synthesis

• Kwak MJ

• KMID: 2432279
• DOI: http://doi.org/10.6065/apem.2018.23.4.169

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.

Keyword

Congenital hypothyroidism; Dyshormonogenesis; Genetics; Whole exome sequencing

MeSH Terms

Congenital Hypothyroidism
Diagnosis
Exome
Genetics*
Thyroid Gland*
Wills

Figure

• 

  Fig. 1. Schematic representation of thyroid hormone biosysynthesis. DIT, diiodotyrosine; DUOX2, dual oxidase 2; DUOXA2, dual oxidase maturation factor 2; TPO, thyroid peroxidase; IYD, iodotyrosine deiodinase; MIT, monoiodotyrosine; NIS, sodium iodide symporter; TG, thyroglobulin; TSHR, thyroid stimulating hormone receptor.

Reference

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