Hypothyroidism usually
appears as either congenital/from birth or acquired in children. Acquired hypothyroidism is an under activity
of thyroid gland in later childhood. It occurs from a condition in which the
body attacks its own tissues. When the thyroid gland gradually stops working eventually
it may cause acquired hypothyroidism. This
first sign of acquired hypothyroidism is growth deceleration. Children may develop constipation, cold
intolerance and decreased energy. Puberty may be very slow, late or
absent. There are gradual changes in facial appearance, face appears pale and puffy.
Other changes include a slow heart rate, some hair loss and slow reflexes.
On the contrary, congenital
hypothyroidism also aka cretinism is an under activity of the thyroid gland at
birth. When the thyroid gland is poorly developed or absent it causes thyroid
hormone deficiency. As a result, thyroxine the main hormone produced by thyroid
gland is not produced and a condition develops called as congenital hypothyroidism. Cretinism causes
growth retardation, developmental delay and other abnormal features. Congenital
hypothyroidism is twice as common in females. This condition is present from
birth therefore it is likely to pass in families.
Cretinism is also caused
due to dietary iodine deficiency in mothers during pregnancy. In areas of
severe iodine deficiency, low concentration of thyroxine in
the blood (hypothyroxinemia) can cause cretinism in both mother and fetus.
The iodine deficient diets affect the developing fetus, newborn and the young
children. In low iodine areas cretinism is a major cause of preventable intellectual
impairment in children. Thus, to prevent irreversible damage iodine should be
given before conception or early in pregnancy.
The symptoms of congenital hypothyroidism appear
gradually. The clinical features depend upon thyroid hormone deficiency and age
of the patient. The clinical features are not characteristic at birth. During
the neonatal period the earliest sign may be prolonged physiological jaundice. The other features present are poor/difficult
feeding, noisy breathing, little cry and much sleep. The abdomen is large with
an umbilical hernia.
The full clinical
presentation develops by 3-6 months. The appearance becomes apathetic, infantile
and unconcerned with the surrounding. The milestone of development is delayed
resulting in short stature. The ratio of upper segment to lower segment is
large due to short legs. The forehead appears wrinkled, while the tongue is broad
and protruded keeping the mouth open. The neck appears short and thick, while
the hands and legs are broad and stumpy. The muscle tone is decreased, slow relaxation
of ankle jerk is observed.
The laboratory investigation
consists of checking serum T4 level, TSH level. Most case of congenital
hypothyroidism is detected by newborn screening tests. The radiograph detects
any retardation of osseous development. Thyroid scans or radio labeled iodine
detect absence of thyroid tissue. The thyroid hormone replacement treatment will
be for lifetime. The thyroxine used for therapy however, should not be mixed
with iron or any formula containing iron or soy.
References: Davidson's principles and practice of medicine, 18th edition