Definition of cretinism

The term "cretinism" identifies a pathology caused by the considerable lack of thyroid hormones, generated, in turn, by the complete absence of the thyroid gland (gland located below the Adam's apple) or by a functional deficit of the same, which makes it unable to synthesize the aforementioned hormones: Thyroxine (T4) and Triiodothyronine (T3).

Classification

In severe cretinism, the thyroid gland may be completely absent (atyroid cretinism): when the pathological manifestation already occurs in the fetus, or at least in the first few days of life, we speak of congenital cretinism or thyroprive . If cretinism occurs later, the cause probably lies in the serious defect of iodine in the diet (endemic cretinism) or depends on a neoplasm at the level of the thyroid or, again, the surgical excision of the same. Another form of cretinism is called family : in this case, however quite rare, the disease is genetically transmitted from parents to children.

Symptoms

Cretinism is a serious pathology in all respects: in fact, the lack of thyroid hormones, already in the embryonic phase, involves an abnormal development of the nerves. As a result, the nerve fibers connect in the brain in a random, wrong and irregular way, and the irreversible damage when not treated promptly is responsible for a pathological bone and joint development, associated with dwarfism and deaf-mutism.

Newborns suffering from cretinism tend to present jaundice, alterations of the bone structure, umbilical hernia, particularly thickened lips and eyelids, tongue hanging out, scaly skin, highly developed head, wrinkled forehead and half-open mouth. Furthermore, most newborns suffering from cretinism find it difficult to feed themselves properly.

The cretin children (suffering from cretinism) present a sadly clumsy appearance, with a particularly evident goiter, a flat but remarkably developed nose, cutaneous xerosis (dry skin), very few hair and a very protruding abdomen.

In adults, the disease evolves generating an abnormal weight gain, a particular perception of cold and a marked mental deficiency, associated with mood changes (jerks often appear sick and depressed), complain about irregular menstrual cycle and strong muscular pains .

All affected patients also have poor brain development.

Endemic cretinism

Cretinism is called "endemic" to highlight the spread of the disease. In fact, especially in the past, goiter (typical of jerks) was particularly widespread due to the lack of iodine in the diet, therefore in food and water. It is clear that the insufficient quantity of iodine prevents the thyroid gland from synthesizing T3 and T4 in sufficient quantities: this triggers a chain mechanism that involves the over-production of thyroid-stimulating hormone TSH (to compensate for the lack of T3 and T4), to which it follows the abnormal development of the thyroid (goiter).

The WHO has outlined endemic cretinism as a group of psychophysical developmental anomalies characterized by goiter, mental deficits, verbal and hearing gaps, inability to maintain a straight position, growth deficit and marked hypothyroidism.

Endemic cretinism, due to its symptomatological complexity, has been divided into two sub-categories:

  • Mixed hematosis cretinism: typical disease of Zaire, in which the cretin sufferers register a notable growth defect, traces of the thyroid gland, strong hormonal alteration (very low T4, very high TSH) with an (almost) imperceptible mental retardation.
  • Neurological cretinism: pathology typical of the countries of New Guinea, in which the cretin subjects show evident mental deficits, strabismus, gait disorder, inability to maintain an upright position. These patients do not show a marked reduction of T3 and T4, and the amount of the TSH hormone is only slightly higher than the physiological levels.

therapies

The timely treatment of cretinism seems to be a very important element for the disappearance (or attenuation) of the symptoms derived from the disease. When the disease is already diagnosed during the fetal stage, the immediate treatment of cretinism can most likely ensure the healthy growth of the future child: generally a therapy based on T3 and T4, already from the earliest stages of embryo development, can be crucial to avoid growth deficits.

The absolute importance of treating the disease in women with goiter during pregnancy is evident.

The correction of iodine deficiency and iodine deficiency is essential to correct the physical and psychological disorders of the disease in time.

If, on the one hand, the subject suffering from cretinism will have to take thyroid hormones for life, paying particular attention to the diet, on the other hand, fortunately, he will be able to ensure a healthy and peaceful life, while undergoing periodic checks.

Prevention

In the Third World, cretinism is very widespread, unlike the industrialized countries; the lack of adequate education and incorrect eating habits worsen the already existing disorder in those regions where endemic cretinism remains a very serious form.

The prevention of cretinism is based, mainly, in the correction of the diet, in the possible intake of thyroid hormones and in the monitoring of symptoms.

Preferring foods rich in iodine is certainly a very effective practice in the prophylaxis of cretinism: it is a good rule, in fact, to flavor foods with iodine-enriched salt, and prefer foods rich in this very important mineral, such as sea fish, crustaceans, eggs, milk, meat and, above all, brown algae.

Prophylaxis with iodized salt allowed to completely eradicate cretinism in Switzerland, a widespread disease until the second half of the twentieth century.

Summary

To fix the concepts ...

Disease

Cretinism

Description

Pathology caused by a considerable hormonal deficiency, generated, in turn, by the complete absence of the thyroid or by a functional deficit of the same

Classification of cretinism
  • atiroid cretinism (severe form of cretinism)
  • congenital cretinism or thyroid
  • endemic cretinism (mixed hematomatism and neurological Cretinism)
  • family cretinism
Symptomatic picture of cretinism
  • Embryonic stage : abnormal development of nerves (nerve fibers connect in the brain randomly, incorrectly and irregularly), deaf-mutism, dwarfism
  • Newborns : jaundice, bone structure alterations, umbilical hernia, particularly thickened lips and eyelids, tongue hanging out, scaly skin, highly developed head, corrugated forehead and half-open mouth
  • Childhood : sadly clumsy appearance, goiter, flat nose, xerosis, abdomen very porgente, very little hair
  • Adult : abnormal weight gain, perception of cold, marked mental deficiency, mood changes, irregular menstrual cycle and severe muscular pain
Endemic cretinism

The thyroid synthesizes an insufficient amount of T3 and T4 → overproduction of TSH → abnormal thyroid development

Possible therapies for cretinism
  • timely treatment of cretinism already during the fetal stage
  • immediate treatment of cretinism: healthy growth of the fetus
  • T3 and T4 based therapy, already from the earliest stages of embryo development
  • treatment of the disease during pregnancy
  • correction of iodine deficiency
  • intake of thyroid hormones for life
  • particular attention to the diet
Prevention of cretinism

The prevention of cretinism is based, mainly, on the correction of the diet, on the possible intake of thyroid hormones and on the monitoring of symptoms:

  • prefer foods rich in iodine, such as sea fish, shellfish, eggs, milk, meat and, above all, brown algae
  • flavor foods with iodine-enriched salt