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      Genetics of congenital hypothyroidism.

      Journal of Medical Genetics

      Amino Acid Sequence, Congenital Hypothyroidism, diagnosis, genetics, therapy, Forkhead Transcription Factors, Humans, Models, Genetic, Molecular Sequence Data, Mutation, Phenotype, Receptors, Thyrotropin, chemistry, Repressor Proteins, Thyroid Dysgenesis, Thyroid Hormones, biosynthesis, metabolism

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          Abstract

          Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsalpha and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism.

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          Journal
          15863666
          1736062
          10.1136/jmg.2004.024158

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