Cretinism

Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (congenital hypothyroidism) usually due to maternal hypothyroidism.

Causes

The most common cause of Cretinism is iodine deficiency. Iodine is necessary for the synthesis of the thyroid hormones, triiodothyronine and thyroxine (T3 and T4). Without iodine, these hormones cannot be made, leading to hypothyroidism and possible Cretinism.

Other causes include genetic defects in the synthesis of thyroid hormones, thyroid agenesis (absence of the thyroid gland), and certain drugs and substances such as lithium and iodides that can cause hypothyroidism.

Symptoms

The symptoms of Cretinism include:

• Short stature
• Delayed physical development
• Intellectual disability
• Coarse facial features
• Protruding tongue
• Umbilical hernia

Diagnosis

Diagnosis of Cretinism is based on clinical examination and laboratory tests. Blood tests are used to measure levels of thyroid hormones (T3 and T4) and thyroid-stimulating hormone (TSH).

Treatment

Treatment for Cretinism involves replacing the deficient thyroid hormones. This is usually done with a synthetic form of thyroxine taken orally each day. Treatment should begin as soon as possible after birth to prevent developmental delays and intellectual disability.

See also

• Hypothyroidism
• Congenital hypothyroidism
• Iodine deficiency
• Thyroid hormones
• Thyroid-stimulating hormone

References

Cretinism Resources
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