Cretinism

Definition of cretinism

With the term "cretinism" s "identifies a pathology caused by the considerable deficiency 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 could be completely absent (atyroid cretinism): when the pathological manifestation already occurs in the fetus, or in any case in the very first days of life, we speak of congenital cretinism or tireoprivo. If cretinism occurs later, the cause probably lies in the severe iodine deficiency in the diet (endemic cretinism) or depends on a neoplasm in the thyroid gland or, again, on the "surgical excision of the same. Another" form of cretinism is called familiar: in this case, however quite rare, the disease is genetically transmitted from parents to children.

Symptoms

Cretinism is a serious disease in all respects: in fact, the lack of thyroid hormones, already in the embryonic stage, leads to an abnormal development of the nerves. Consequently, the nerve fibers are connected in the brain in a randomized, wrong and irregular way, and the damage, irreversible when not treated promptly, is responsible for a completely pathological bone and joint development, associated with dwarfism and deaf-mutism.
Infants with cretinism tend to have jaundice, bone structure changes, umbilical hernia, particularly thickened lips and eyelids, tongue out, scaly skin, highly developed head, wrinkled forehead, and half-open mouth. In addition, most affected infants from cretinism struggles to feed properly.
Cretin children (suffering from cretinism) have a sadly clumsy appearance, with a particularly evident goiter, a flat but noticeably developed nose, cutaneous xerosis (dry skin), very little 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 (idiots often appear sick and depressed), complain of irregular menstruation and severe muscle pain. .
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 cretins) was particularly widespread due to the lack of iodine in the diet, therefore in food and water. It is clear how the insufficient amount of iodine prevents the thyroid gland from synthesizing T3 and T4 in sufficient quantities: this triggers a chain mechanism that involves the overproduction of thyroid stimulating hormone TSH (to compensate for the deficiency of T3 and T4), to which it follows the abnormal development of the thyroid gland (goiter).
The WHO has delineated endemic cretinism as a group of psychophysical developmental abnormalities characterized by goiter, mental deficits, speech and hearing gaps, inability to maintain an upright position, growth failure and marked hypothyroidism.
Endemic cretinism, due to its symptomatic complexity, has been divided into two sub-categories:

• Myxedematous cretinism: typical disease of Zaire, in which the sick cretins record 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: typical pathology of New Guinea countries, in which the cretin subjects show evident mental deficits, strabismus, gait disorder, inability to maintain an upright position. These patients do not present a marked reduction in T3 and T4, and the quantity 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 alleviation) of the symptoms derived from the disease. When the disease is diagnosed already during the fetal stage, the immediate cure of cretinism can most likely ensure the healthy growth of the disease. future child: in general a therapy based on T3 and T4, already from the earliest stages of development of the embryo, can be decisive in avoiding growth deficit.
The absolute importance of treating the disease in women with goiter during pregnancy is evident.
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, unfortunately, the subject affected by cretinism will have to take thyroid hormones for life, also paying particular attention to the diet, on the other, 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 disorder already existing in those regions where endemic cretinism remains a very serious form.
The prevention of cretinism is mainly based on the correction of the diet, on the possible intake of thyroid hormones and on 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 to 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 made it possible to completely eradicate cretinism in Switzerland, a widespread disease until the second half of the twentieth century.

Summary

To fix the concepts ...

Illness

Cretinism

Description

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

Cretinism classification

• atyroid cretinism (severe form of cretinism)
• congenital or thyroid cretinism
• endemic cretinism (myxedematous cretinism and neurological cretinism)
• family cretinism

Symptom picture of cretinism

• Embryonic stage: abnormal nerve development (nerve fibers connect in the brain in a randomized, wrong and irregular way), deaf-mute, dwarfism
• Babies: jaundice, bone structure changes, umbilical hernia, particularly thickened lips and eyelids, tongue out, scaly skin, very developed head, wrinkled forehead and half-open mouth
• Childhood: sadly clumsy appearance, goiter, flat nose, xerosis, very protruding abdomen, very little hair
• Adult: abnormal weight gain, perception of cold, marked mental deficiency, mood changes, irregular menstruation and severe muscle pain

Endemic cretinism

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

Possible therapies for cretinism

• timely treatment of cretinism already during the fetal stage
• immediate cure of cretinism: healthy growth of the fetus
• therapy based on T3 and T4, already from the earliest stages of embryo development
• treatment of the disease during pregnancy
• correction of iodine deficiency
• lifelong intake of thyroid hormones
• special attention to diet

Prevention of cretinism

The prevention of cretinism is mainly based 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, crustaceans, eggs, milk, meat and, above all, brown algae
• season foods with iodine-enriched salt