Familial Forms of Thyroid Dysgenesis among Infants with Congenital Hypothyroidism

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Abstract
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.3-5 However, among cases of congenital hypothyroidism, the proportion of familial cases caused by thyroid dysgenesis is not known.