HIPOTIROID KONGENITAL

CONGENITAL HYPOTHYROIDISM (Cretinism)

Etiology

The most common type of hypothyroid state seen in pediatric practice throughout the world is
due to absence of thyroid gland (athyrotic cretinism), rudimentary thyroid or dysgenesis of
thyroid. It is also referred to as sporadic cretinism (1 per 3000-4000).

Thyroid Dysgenesis. Some form of thyroid dysgenesis (aplasia, hypoplasia, or an ectopic gland)
is the most common cause of permanent congenital hypothyroidism, accounting for 80-85% of
cases. Thyroid dysgenesis occurs sporadically, but familial cases occasionally have been reported.

Clinical Features

The earliest manifestations include lethargy, sluggishness, hoarse cry, feeding difficulties,
oversleeping, persistent constipation, prolongation of physiologic jaundice, abdominal
distention with umbilical hernia, anemia (poorly responding to hematinics) and cold, dry, rough
and thick skin. These infants are unusually large and heavy at birth. The classical features of
cretinism take a few weeks (8 to 12) to manifest (Figs 34.1 to 34.4). The facies are characteristic—
a large tongue* protruding from large open mouth with thick lips, “puffy eyelids”, depressed
nasal bridge, seemingly widely-apart eyes (pseudohypertelorism) and wrinkled forehead with
sparse eyebrows and the hairline reaching to exceedingly low level over it. The neck is short
and there is often a pad of supraclavicular fat. The scalp hair is scanty, rough, dry and brittle. The
skin is rough, thick, dry and cold. Anterior fontanel and coronal sutures are often widely open.
Voice is hoarse. Dentition is delayed. Hypotonia is more or less always present. Rarely,
hypertonia with muscular hypertrophy (Figs 34.5 and 34.6) may occur as in Kocher-
DebreSemelaigne (KDS) syndrome. Abdomen is often distended and an umbilical hernia of
variable size is present. Hands are broad with short fingers. Anemia is generally present.
Constipation, not responding to courses of laxatives, and changes in feeding regimens, is usual.
Besides the classical features, which should always arouse suspicion of cretinism, these children
are very sluggish in their behavior. Mental retardation is invariably coexisting. Physical
milestones are also considerably delayed. Growth is remarkably retarded. The upper
segment/lower segment body ratio may continue to be 1.7:1, the so-called infantile skeletal
proportions.
Prognosis
Thyroid hormone is critical for normal cerebral development in the early postnatal months;
biochemical diagnosis must be made soon after birth, and effective treatment must be initiated
promptly to prevent irreversible brain damage. With the advent of neonatal screening programs
for detection of congenital hypothyroidism, the prognosis for affected infants has improved
dramatically. Early diagnosis and adequate treatment from the 1st weeks of life result in normal
linear growth and development. Most studies report that psychometric testing in infants
detected by newborn screening shows verbal, psychomotor, and global IQ scores similar to those
of unaffected siblings or classmate controls.
Delay in diagnosis, failure to correct initial hypothyroxinemia rapidly, inadequate
treatment, and poor compliance in the 1st 2-3 yr of life result in variable degrees of brain damage.
Without treatment, affected infants are profoundly intellectually challenged and growth
retarded. When onset of hypothyroidism occurs after 2 yr of age, the outlook for normal
development is much better even if diagnosis and treatment have been delayed, indicating how
much more important thyroid hormone is to the rapidly growing brain of the infant.