Congenital hypothyroidism is the result of insufficient production of thyroid hormones in newborn infants. It can occur due to the anatomical defects in the thyroid gland, inborn errors of metabolism or thyroid iodine deficiency.
Infants with congenital thyroid insufficiency, usually born the date or slightly after. Among the first symptoms of thyroid problems can be mentioned:
- decreased activity,
- large front fontanelle,
- poor feeding and weight gain,
- a small or slight increase,
- constipation and irregularities in the stool,
- hypotonia – the state of reduced muscle tone,
- hoarse cry.
Infants with congenital thyroid insufficiency often are defined as “good children” because they rarely cry and sleep most of the time.
Among the physical symptoms, that may occur with hypothyroidism, may also be included:
- coarse facial features,
- macroglossia – a condition in which the tongue is unusually large,
- large fontanelle,
- spotted, dry skin,
- developmental delay,
- pale skin,
- thyroid goiter.
In addition, there can also appear anemia, which occurs due to the reduced need for oxygen transport. On average, 3-7% of newborns with congenital thyroid insufficiency has other birth defects as atrial fibrillation and ventricular septal defect.
The diagnosis and treatment of congenital hypothyroidism
The diagnosis is confirmed by demonstrating reduced levels of thyroid hormone and elevated levels of thyroid stimulating hormone (TSH). Among other tests sometimes is used scanning of the thyroid gland, which can provide important information on the etiology of the disease.
Helpful is also ultrasound or lateral knee X-ray – the base of the femur is a center of ossification, which occurs in about 36 weeks of pregnancy, and its absence within a period before birth may already show the effects of hypothyroidism.
The basis for the treatment of congenital hypothyroidism is its early diagnosis. Optimal care could include a diagnosis made before 10 to 13 days of age, at the time, there is a good chance to normalize the levels of thyroid hormones in the blood up to 3 weeks of age of the child.
It is recommended the use of levothyroxine, delivered in the form of tablets, crushed and dissolved in a little amount of water, milk or other liquids. Little ones do not have problems with the consumption of the medication in this form.