Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report


Isik E., Beck-Peccoz P., Campi I., ÖZÖN Z. A. , ALİKAŞİFOĞLU A., GÖNÇ E. N. , ...More

TURKISH JOURNAL OF PEDIATRICS, vol.55, no.3, pp.322-327, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 3
  • Publication Date: 2013
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.322-327
  • Hacettepe University Affiliated: Yes

Abstract

Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation.