A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

Thyroid dyshormonogenesis is responsible for 10-15% of all cases of congenital hypothyroidism and is usually inherited. We report a 26-year-old German-Thai male with congenital hypothyroidism caused by a compound heterozygous mutation in the thyroid peroxidase (TPO) gene. He was diagnosed with conge...

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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Sriphrapradang, Chutintorn, Thewjitcharoen, Yotsapon, Chanprasertyothin, Suwannee, Nakasatien, Soontaree, Himathongkam, Thep, Trachoo, Objoon
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5096484/
https://ncbi.nlm.nih.gov/pubmed/26761947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2503
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