Classification and Diagnosis

Although shown on an occasional autopsy or dissection, the connection between goiter and the thyroid gland was not clear as a concept. Other diseases of the neck confounded the connection in a living patient. The main confounder was scrofula, which in medieval Latin meant "swelling of the glands" and today is still used to connote tuberculous lymph glands (or nodes) in the neck.

Because obvious and severe goiter affecting large portions of a population occurred only in certain regions, the disease in these areas was called endemic. In these instances the connection to the thyroid gland was fairly clear. But where only a few individuals in a population had a mass in the neck, it might be called sporadic goiter — because not endemic - or something else. If the mass was not too large, it might move with swallowing and so was called an enlarged thyroid. But if the mass were nodular, firm, and immovable, then it was considered to be probably characterized by tuberculous nodes. This diagnostic confusion persisted until the mid-nineteenth century. Jean Louis Alibert, for example, classified endemic goiter as a type of scrofula ("endemic scrofula") found in rural areas (Alibert 1835). Today endemic goiter is arbitrarily defined; it is present, according to some, if more than 10 percent of a population is goitrous.

Besides the occasional large and disfiguring goiters that were cosmetically distressing and sometimes blocked breathing, endemic goiter areas also produced a much smaller number of people who were retarded from birth, both mentally and physically, whose faces were disfigured, and who were sometimes deaf and mute. Most but not all had goiter, which was also common in their mothers. They were called cretins, and their disease, endemic cretinism. The word "cretin" probably derives from the French cretien, and thence from the Latin christianus (or Christian); the term was probably used to make clear that these persons were truly human.

Cretinism is probably as ancient a disease as goiter, but descriptions are not as old. Travelers' observations, again in the Alps, go back to the early thirteenth century, but clinical allusions begin with Paracelsus (Theophrastus Bombastus von Hohen-heim), lecturing about 1527, who connected cretinism (or at least "fools") with goiter. Good descriptions begin with Felix Platter, who probably observed it in 1562 and who also made the association of cretinism with goiter (Cranefield 1962).

Thus, by the seventeenth century, the concept of goiter as an abnormally enlarged thyroid gland was reasonably well established as was its association with cretinism and with the mountainous alpine areas of Europe. Yet, cretinism in particular was rare outside densely goitrous sites in the Alps, and thus most European physicians never saw it. Just as goiter could be confounded with other neck diseases, so could cretinism with any sort of mental retardation. Thus a certain amount of diagnostic "fuzziness" persisted into the nineteenth and twentieth centuries.

Today goiter means only an enlarged thyroid, and any large thyroid is a goiter. The goiter may be uniformly and diffusely enlarged ("simple" or diffuse goiter), have several lumps in it (multinodular goiter), or be only a single nodule, although on closer study many of the latter prove to be multinodular. The standard screening method of the World Health Organization in endemic areas is to assign gradations to the disorder. Grade O is no goiter, grade 1 is a goiter that is palpable but not visible, grade 2 is an easily visible goiter, and grade 3 is a very large goiter visible 30 meters away (Stanbury and Hetzel, eds. 1980).

Some goiters are malignant (e.g., thyroid cancer or lymphoma), but the vast majority are benign. Some are associated with specific thyroid diseases such as hyperthyroidism (an overactive thyroid); its opposite, hypothyroidism (an underactive thyroid; such as in goitrous cretinism); and thyroiditis (an inflammation of the thyroid that can be acute or chronic). The taxonomies (geographic, clinical, and etiologic) persist today, derived from different types of data with different historical origins. They overlap considerably and continue to give rise to confusion in diagnosis and treatment.

Cretinism is called endemic if it is found in an area of endemic goiter, but is called sporadic if not found in an endemic area; the latter is almost always nongoitrous. Again, entirely different causes underlie the two types. Both goiter and cretinism, whether endemic or sporadic, can be associated with hypothyroidism, although the notion that cretinism is synonymous with childhood hypothyroidism is false. Hypothyroidism is common but not universal in cretinism, and it occurs only occasionally with goiter.

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