Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
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
Review Article
Genetically Determined Central Hypothyroidism
Author(s): Antonis Voutetakis, Nikolaos Settas and Catherine Dacou-Voutetakis
Antonis Voutetakis, Nikolaos Settas and Catherine Dacou-Voutetakis
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 TS??-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-link.. View More»
DOI:
10.4172/2157-7412.1000172