Congenital Hypothyroidism: Presentations and Diagnosis.

Congenital hypothyroidism is the complete or partial loss of function of an infant’s thyroid gland from birth (congenital). The condition occurs when the thyroid gland in infants fails to function or develop properly. The thyroid gland produces iodine-containing hormones that are essential for brain development, regulating growth and metabolism (the rate of various chemical reactions in the body).

Congenital Hypothyroidism in Newborns

Causes of Congenital Hypothyroidism

In 80% of congenital hypothyroidism cases, the thyroid gland is abnormally located, absent, or severely reduced in size (hypoplastic). These cases are known as thyroid dysgenesis. In about 20% of the cases, an enlarged thyroid gland (goiter) or a normal-sized thyroid gland is present, but the production of thyroid hormones is absent or reduced. These cases are known as thyroid dyshormonogenesis (impairment of one or more steps in the process of hormone synthesis). Central or pituitary hypothyroidism is a classification of rare cases of congenital hypothyroidism caused by impaired stimulation of the hormone production process which is usually done by the pituitary gland (at the base of the brain).

Presentation

Most infants suffering from congenital hypothyroidism are clinically normal at birth largely due to the presence and protection by the mother’s thyroid hormones during pregnancy. After 3 to 4 weeks, infants rely solely on their own hormones. If they don’t produce enough thyroid hormone, the symptoms will start showing up. However, some babies with congenital hypothyroidism may show the effects at birth.

Congenital Hypothyroidism – Signs and symptoms

  • Somnolence (sleeping for unusually long periods or a very strong desire to sleep)
  • Low frequency of crying
  • Constipation or decreased stooling
  • Feeding difficulties
  • Lethargy
  • Decreased activity
  • Jaundice
  • Hoarse cry
  • Hypotonia
  • Nasal obstruction

Affected infants are often described as “good children” because they sleep most of the time and they rarely cry.

Congenital Hypothyroidism Symptoms

The physical symptoms of congenital hypothyroidism include:

  • Large anterior fontanelles
  • Poor growth or small stature (developmental delay)
  • Weight gain and poor feeding
  • Coarse facial features
  • Goitre
  • Cool, mottled and dry skin
  • Macroglossia
  • Umbilical hernia
  • Pallor
  • Myxoedema: Oedema of the genitalia and a large head
  • Distal femoral epiphysis and failure of fusion.
  • Hypertelorism, narrow palpebral fissures, swollen eyelids and depressed nose bridge
  • Refractory anemia
  • Cardiomegaly
  • Pericardial effusion (asymptomatic)
  • Bradycardia

At least 5% of infants suffering from congenital hypothyroidism have other congenital defects such as ventricular septal defects and atrial septal defects. If not treated early, infants may have poor co-ordination, delayed mental development and learning difficulties.

Diagnosis

Babies are usually screened at birth using small blood samples taken via pinpricks and analyzed for T4 and TSH.

  • A low T4 and high TSH confirms the diagnosis
  • The levels of thyroglobulin can also be measured. With normal TSH, total T4 is usually low; however, free T3 and T4 are within normal range. Such cases require no further treatment.
  • In some cases, infants need to have thyroid radionuclide scanning and/or thyroid ultrasound screening.
  • Thyroid auto-antibodies can also be measured.
  • False positive results can be due to thyroglobulin deficiency and intercurrent illness.

About 20 percent of infants suffering from congenital hypothyroidism may have a slight increase in the levels of TSH.

Wishing you the best health and happiness!

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