2016) G9a/GLP Citation: Nicola JP (2017) Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism
- T Zhang, A Termanis, B Ozkan, XX Bao, J Culley
- J Mol Genet Med
Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, is the most frequent endocrine disorder in pediatric patients with an incidence estimated in 1:2,0004,000 newborns. Significantly, iodide deficiency still remains as the leading cause of hypothyroidism at birth . However, in iodidesufficient countries, a number of recent studies indicates that 58% to 69% of congenital hypothyroidism is caused by genetic abnormalities resulting in thyroid dysgenesis, including thyroid (hemi)-agenesis, hypoplasia and ectopy. Meanwhile 31% to 42% of the patients have eutopic thyroid gland consistent with genetic defects that impair thyroid hormone synthesis, also called dyshormonogenesis . Other less common genetic causes of congenital hypothyroidism include central hypothyroidism or defects in peripheral thyroid hormone action, cellmembrane transport, or metabolism [3-5].