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Correspondence
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Volume 343:441-442 August 10, 2000 Number 6
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Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

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To the Editor: Thyroid dysgenesis (thyroid aplasia or an ectopic thyroid gland) is responsible for 85 percent of cases of congenital hypothyroidism. The pathogenesis of thyroid dysgenesis is not known. Although a few familial cases have been reported,1,2 the disorder is considered to be sporadic. Some cases caused by mutations of several genes involved in thyroid organogenesis (the thyroid transcription factor 1 and 2 genes and PAX 8) and the gene for the thyrotropin receptor have been reported.3,4,5 However, among cases of congenital hypothyroidism, the proportion of familial cases caused by thyroid dysgenesis is not known.

In a study . . . [Full Text of this Article]

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