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Congenital Hypothyroidism
Dr Ira Shah
M.D, DNB, DCH(Gold Medalist), FCPS

The prevalence of congenital hypothyroidism approximates 1 in 4000 birth. Etiologies include:

Thyroid dysgenesis (e.g. Aplasia, hypoplasia, ectopic thyroid) (75%)
Thyroid dyshormonogenesis (TSH unresponsiveness, iodide trapping defect organification defect, defect in thyroglobulin) (10%)
Hypothalamic-pituitary (TSH) deficiency (5%)
Transient hypothyroidism (iodine, drug or maternal antibody induced) (10%).

Clinical Manifestations: Congenital hypothyroid child may present with slightly increased head size due to myxedema of the brain. There may be prolongation of physiological jaundice, lethargy, somnolence, large tongue and nasal obstruction. Affected infants cry little, sleep more and are very lethargic. There may be presence of umbilical hernia, hypothermia, constipation, edema of genitals and extremities, cardiomegaly, bradycardia and asymptomatic pericardial effusion.

Symptoms appear gradually and if neonatal screening is not done, the diagnosis is often delayed. Ideally a neonatal screening (TSH screening) for CH should be routinely done in all children as treatment of affected infants within 45 days of birth leads to normal mental development. The TSH should be done 3 to 5 days after birth and patients with TSH levels more than 20-25 mU/L should be assessed further.

When there is partial deficiency of thyroid hormone as in ectopic thyroid and thyroid dyshormonogenesis, the symptoms may be milder. As the child grows, infantile proportions are maintained and child may have disproportionate short stature. Both anterior and posterior fontanelles are wide-open and coarse facies such as hypertelorism, depressed nasal bridge, puffiness of eyes; open mouth and short neck develop. Skin may appear yellow due to carotenemia. Hairline reaches far down on forehead and development is retarded. Voice is hoarse and child has hypotonia. Goiter may be seen in patients with dyshormonogenesis, thyroid hormone resistance and transient hypothyroidism.

Diagnosis: - Once clinically suspected or a positive neonatal screening test; the diagnosis is confirmed by serum T4 and TSH levels. The TSH will be elevated (>10 mcU/ml) and T4 will be low (<6.5 mcg/dl) in neonatal period in patients with CH. 20% of the infants may have normal T4 with modest TSH elevations. Such infants may require repeat examinations to establish a diagnosis of CH. Intrauterine deprivation of thyroid hormone may retard osseous centers and manifest as absent distal femoral epiphysis at birth.

Treatment
Treatment should be started as soon as diagnosis is confirmed. The goal of therapy is early, adequate thyroid hormone replacement. It is desirable to maintain the serum T4 in the upper half of normal range in infants. An initial dose of thyroxine at 10-15 mcg/kg/day is recommended to minimize IQ loss. Infants with transient hypothyroidism should not be treated unless low T4 and elevated TSH persist beyond 2 weeks. Therapy in them should be discontinued after 8 to 12 weeks (in patients with maternal goitrogenic drugs) or by 5 months (in infants with maternal autoantibody).

T4 and TSH should be monitored at regular intervals. Over treatment should be prevented and can be recognized by signs such as tachycardia, excessive nervousness, disturbed sleep pattern, advanced bone age and craniosynostosis.

Children may require a dose of 4 mcg/kg/day.

References
  1. Pediatric Endocrinology – Sperling MA, 1 st ed. Philadelphia, W.B. Saunders Company, 1996, pg 57-64.
  2. Nelson’s Textbook of Pediatrics – Behrman RE et al, 16 th ed. Vol.2, Philadelphia, W.B. Saunders Company, 2000, pg 1698-1703
Last Updated on 11-08-2007

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