Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone (Th) resistance and suggestions for differential diagnosis in patients without mutation of Th receptor β

Author:

Macchia Enrico1,Lombardi Martina1,Raffaelli Valentina1,Piaggi Paolo1ORCID,Macchia Lorenzo1,Scattina Ilaria1,Martino Enio1

Affiliation:

1. Department of Clinical and Experimental Medicine; Section of Endocrinology; University of Pisa; Pisa Italy

Funder

University of Pisa [Fondi d'Ateneo]

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference23 articles.

1. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone;Refetoff;Nature Clinical Practice Endocrinology & Metabolism,2008

2. Classification and proposed nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism;Refetoff;Thyroid,2014

3. The syndrome of resistance to thyroid hormones;Refetoff;Endocrine Reviews,1993

4. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptors alpha or beta genes may be due to a defective co-factor;Weiss;Journal of Clinical Endocrinology and Metabolism,1996

5. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene;Takeda;The Journal of Clinical Endocrinology and Metabolism,1992

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