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Cretinism is caused by a lack of thyroid hormones during fetal development or shortly after birth. It can cause severe mental retardation and stunted growth. Diagnosis is made by testing hormone levels in newborns, and treatment involves hormone replacement therapy. The term “cretin” should not be used as it has negative connotations.
Cretinism, also known as congenital hypothyroidism, is a condition caused by a lack of thyroid hormones while a fetus is developing in the womb or shortly after birth. In developing countries, the cause is usually a lack of iodine, but in developed countries this deficiency is usually caused by a defect in the development of the thyroid gland itself, although it has also been linked to an inherited condition that disrupts thyroxine synthesis . Thyroxine is a hormone composed mainly of iodine that regulates the rate of cellular oxidation. Another cause has been attributed to antithyroid drugs taken by the mother during pregnancy, but this cause is uncommon.
If left untreated, cretinism can stunt growth to the level of dwarfism and cause severe mental retardation. Without a properly functioning thyroid, bones and muscles will degenerate, as the thyroid plays a key role in metabolism and cellular development. In short, iodine must be present for the thyroid to function properly, and the thyroid must function properly for cells to develop. If individual cells don’t develop, they can’t form strong bones and muscles. Thus, cretinism, or congenital hypothyroidism, is the result of any disruption of this cycle.
Infants with cretinism may be of normal height and weight, but symptoms in infants who are not breastfed usually appear within the first few months. Breastfed babies may have delayed symptoms due to the thyroid hormones in breast milk. Many will have breathing problems, feeding difficulties, appear inactive and suffer from jaundice. They may also sleep excessively, cry infrequently, and have difficulty breathing. It is very important to seek treatment as soon as possible before the increase in mental disability becomes irreversible.
Diagnosis is made by testing hormone levels in newborns, and if the tests indicate a problem, a thyroid scan will be done to evaluate the thyroid gland. If tests confirm cretinism, patients receive hormone replacement therapy in the form of oral thyroxine. Ideally, this treatment should be started within the first few weeks of life and treatment will continue for life, with doses reduced or increased as appropriate.
At one time, the term cretin was used to describe someone with cretinism. The medical community has since dropped the term as it has taken on negative connotations. How idiotic and dumb, this medical term has found its way into mainstream jargon and is used as an insult, so it’s best left out of one’s vocabulary when referring to those with cretinism.
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