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ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Review Article

Genetically Determined Central Hypothyroidism

Antonis Voutetakis, Nikolaos Settas and Catherine Dacou-Voutetakis*

First Department of Pediatrics, Division of Endocrinology Diabetes and Metabolism, University of Athens, Medical School, “Aghia Sophia” Children’s Hospital, Athens, Greece

*Corresponding Author:
Catherine Dacou-Voutetakis
First Department of Pediatrics
Division of Endocrinology Diabetes and Metabolism
University of Athens, Medical School
“Aghia Sophia” Children’s Hospital
Thivon & Livadeias, 11527, Athens, Greece
Tel: 00302107237257
Fax: 00302107237257
E-mail: [email protected]

Received date: July 20, 2013; Accepted date:August 19, 2013; Published date: August 21, 2013

Citation: Voutetakis A, Settas N, Dacou-Voutetakis C (2013) Genetically Determined Central Hypothyroidism. J Genet Syndr Gene Ther 4:172. doi:10.4172/2157-7412.1000172

Copyright: © 2013 Voutetakis A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Central, secondary or low TSH hypothyroidism can be congenital or acquired. Congenital Central hypothyroidism (CH-C), either isolated or (unlike primary hypothyroidism) combined with deficiency of other pituitary hormones, is usually caused by mutations in genes related either to TSH synthesis or pituitary ontogenesis. The prevalence of CH-C is higher than previously considered, ranging from 1:16000 to 1:20000 live births. Isolated CH-C is most frequently caused by mutations in the TSΗβ-subunit and in rare cases by TRHR gene mutations. Either one of these mutations are inherited as a recessive trait. In patients with multiple pituitary hormone deficiency, molecular defects have been detected in the following genes: IGSF1, PROP1, POU1F1, LHX3, LHX4, HESX1, SHH, TGIF, GLI2. The resulting phenotype varies and the mode of inheritance could be autosomal dominant, autosomal recessive or X-linked, depending on the specific gene involved. In patients with CH-C, the timely identification of the underlying genetic defect is crucial because it leads to early and appropriate management that improves prognosis and determines genetic counseling.

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