Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and "Apparent" Thyroid Dysgenesis


Kuehnen P., Turan S. , Froehler S., Gueran T. , Abali S., Biebermann H., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.99, no.1, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.1210/jc.2013-2619
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Abstract

Context: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis.