Clinical genetics of defects in thyroid hormone synthesis
Annals of Pediatric Endocrinology & Metabolism
;
: 169-175, 2018.
Article
in English
| WPRIM
| ID: wpr-719226
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thyroid Gland
/
Wills
/
Congenital Hypothyroidism
/
Diagnosis
/
Exome
/
Genetics
Type of study:
Diagnostic study
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2018
Type:
Article
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