What Causes Cretinism?

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Cretinism, also known as congenital hypothyroidism, affects newborn infants through an anatomic thyroid defect, an error of thyroid metabolism, or iodine deficiency, according to Medscape. Symptoms present at birth include lethargy, enlarged anterior fontanel, poor feeding and rough facial features. In addition, cretinism is commonly accompanied by neck swelling, which manifests as goiters.

Iodine deficiency is a major cause of cretinism, according to The National Center for Biotechnology Information. The important role that iodine plays in the treatment of cretinism was discovered in the late 19th century. This discovery led to public health measures, which initiated the supplementation of iodine in table salt.

Other causes of congenital hypothyroidism affect one in every 3500 live births, as stated by The National Center for Biotechnology. Aggressive neonatal screening has taken precedence to avoid a delay in diagnosis and possible effects of developmental and physical delays. Screening programs include filter paper blood spots to assess thyroid stimulating hormone.

Thyroid scans and imaging are used to ascertain the cause of the hypothyroidism, states Medscape. Treatment includes thyroid replacement therapy, with the goal of stabilization of the thyroid by 3 weeks of age. Timely diagnosis and treatment of cretinism prevent grave developmental delay that was a common occurrence in the past century.