Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Cangul H., Aycan Z., Olivera-Nappa A., Saglam H., Schoenmakers N. A. , Boelaert K., ...Daha Fazla

CLINICAL ENDOCRINOLOGY, cilt.79, sa.2, ss.275-281, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 79 Konu: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1111/cen.12127
  • Sayfa Sayıları: ss.275-281


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.