Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

Cangul H., Aycan Z., Olivera-Nappa A., SAĞLAM H. , Schoenmakers N. A. , Boelaert K., ...More

Clinical endocrinology, vol.79, no.2, pp.275-81, 2013 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 79 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.1111/cen.12127
  • Title of Journal : Clinical endocrinology
  • Page Numbers: pp.275-81


Objective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). Context Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease.