Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community

Cangul, Hakan; Aycan, Zehra; Olivera-Nappa, Alvaro; SAĞLAM, HALİL; Schoenmakers, Nadia; Boelaert, Kristien; Cetinkaya, Semra; TARIM, ÖMER; BÖBER, ECE; Darendeliler, Feyza; Bas, Veysel; DEMİR, KORCAN; Aydin, Banu; Kendall, Michaela; Cole, Trevor; Hoegler, Wolfgang; Chatterjee, V.; Barrett, Timothy; Maher, Eamonn

doi:10.1111/cen.12127

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.275-281, 2013 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 79 Issue: 2
Publication Date: 2013
Doi Number: 10.1111/cen.12127
Journal Name: CLINICAL ENDOCRINOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.275-281
Dokuz Eylül University Affiliated: Yes

Abstract

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.