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J Pediatr Endocrinol Metab. 2008 Nov;21(11):1093-7.

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.

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  • 1Dr. von Hauner University Children's Hospital, Pediatric Endocrinology and Medical Genetics, Munich, Germany.


Congenital primary hypothyroidism occurs in one out of 4,000 births. About 20% of cases are due to defects in thyroid hormonogenesis. We report on a German girl with congenital hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene who had elevated serum levels of thyroglobulin during periods of hyperthyrotropinemia.


The TPO gene was sequenced directly from genomic DNA.


The patient had a novel homozygous mutation (R314W) in the TPO gene. The unaffected parents were non-consanguineous and both heterozygous carriers of the mutation. Fifty normal individuals did not harbor the mutation ruling out a common polymorphism.


The identified TPO gene mutation (R314W) is very likely the genetic cause for hypothyroidism in the reported child. R314W has not been described before and codes for a presumably inactive TPO molecule.

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