Thanks to the national campaigns of selective detection of this disease, as well as of phenilketonuria and cystic fibrosis, now a law, the detection of this pathology allows early diagnosis and treatment, with healthy children without maturative problems or neurological sequelae.
Congenital hypothyroidism is characterised by shortage of the thyroid hormone.
The most frequent causes are congenital malformations (dysgenesis, thyroid aplasia), that is to say, malformed or rudimentary thyroid glands or of erratic location (for example, lingual). These can also be sporadic (non hereditary) or common within the family.
Clinically, there may be no symptoms at first; that is why we should be alert.
It is twice as frequent in girls. Heavy weight at birth can make us think of the disease but it is not of diagnostic value. Among the earliest signs are prolonged physiological jaundice (jaundice: yellow skin and mucosa) and the dalayed fall of the umbilical cord.
After the first month of life we can see apathy, somnolence, difficulty in eating with possible episodes of choking when being breast-fed or fed with the nursing bottle, episodes of breathing pauses of the obstructive kind.
Another common symptom is constipation but, logically, within the context of the disease.
The professional finds in the baby a voluminous abdomen, umbilical hernia, a big tongue, cold pale skin, swollen face and other signs.
If the diagnosis is not quickly made these manifestations get worse and the growth and maturation delay is visible. If we see a child who is small in size, edematised, pale, hypotonic with a weak husky weep, the forecast is bad.
The thyroid hormone is essential for a normal brain growth during the first months of life.
The treatment to be chosen is an oral hormone suplement (L Thyroxine Sodium).