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Article

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

1 Jan 2012

Abstract excerpt

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian...

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Identifiers

PMID: 22876533
DOI: 10.1515/jpem-2012-0053

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