Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-alpha Mutations

DEMİR, KORCAN; van Gucht, Anja; Buyukinan, Muammer; Catli, Goenuel; AYHAN, YAVUZ; Bas, Veysel; Dundar, Bumin; Ozkan, Behzat; Meima, Marcel; Visser, W.; Peeters, Robin; Visser, Theo

doi:10.1210/jc.2016-1404

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-alpha Mutations

DEMİR K., van Gucht A. L. M., Buyukinan M., Catli G., AYHAN Y., Bas V. N., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, no.8, pp.2945-2954, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 101 Issue: 8
Publication Date: 2016
Doi Number: 10.1210/jc.2016-1404
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.2945-2954
Open Archive Collection: AVESIS Open Access Collection
Dokuz Eylül University Affiliated: Yes

Abstract

Context: Recently several patients with resistance to thyroid hormone (RTH)-alpha due to T-3 receptor-alpha (TR alpha) mutations were identified. The phenotype of these patients consists of varying degrees of growth impairment, delayed bone, mental and motor development, constipation, macrocephaly, and near-normal thyroid function tests.