Ontology highlight
ABSTRACT:
SUBMITTER: Kwak MJ
PROVIDER: S-EPMC6312914 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Annals of pediatric endocrinology & metabolism 20181231 4
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 thi ...[more]