Genetic Link To Congenital Hypothyroidism

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May 11, 2001

A recently published study reviewed the findings of nineteen years of newborn thyroid screening in France. During that time period, 14,416,428 newborns were screened for thyroid disease. Of that number, 4,049 cases of congenital hypothyroidism were detected. Approximately, two-thirds of these cases (2,863)were due to some form of thyroid malformation. Infomation was collected through questionnaires sent to the treating pediatricians with an 86% return.

From this group, 67 children from 32 families with a history of thyroid disease. These families included at least two members with thyroid disease including a missing thyroid gland (athyreosis) or thyroid tissue present in other parts of the body (ectopic thyroid). There was also a higher number of other congenital malformations in this group than in the random cases suggesting that genetic factors might affect not only the thyroid but also other organ development. Interestingly, there was a much lower number of females in this group than in those with random congenital hypothyroidism.

While the number of children identified with a family history was small, it was greater than random chance. This study certainly adds to the subjective reports of family cases of thyroid disease.

Source:

Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J J Clin Endocrinol Metab 2001 May;86(5):2009-14

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