Hypothyroidism
In congenital hypothyroidism, there is a deficiency in thyroid hormones
which may start before birth, at birth or shortly thereafter. Because of the advancement in Science, this condition is diagnosed early since this is one among the conditions tested in the newborn screening.
Goitrous hypothyroidism may result from an inborn error of thyroxine synthesis
or from drugs ingested by the mother during pregnancy. Nongoitrous hypothyroidism may be due to absent or hypoplastic thyroid gland.
So what are the features of congenital hypothyroidism? Clinically, affected
newborns will have the following:- prolonged gestation with large birth size
– large anterior fontanel
– respiratory distress
– hypothermia
– peripheral cyanosis
– hypoactivity
– poor feeding
– delayed onset of stooling
– abdominal distention
– vomiting
– protracted icterus
– edema
Classically, the newborn will also have these looks:
– eyes which appear far apart
– swollen eyelids
– narrow palpebral fissures
– broad nose with depressed bridge
– open mouth with thick broad tongue
The mother will usually notice that the infant is unusually quiet. The feeding
and other physical activities are generally poor. The prognosis of congenital hypothyroidism depends on how early treatment is started. If treated within the first 4-6 weeks of life, infants will develop well and will have an IQ comparable to those in control populations. Those who are not diagnosed and treated adequately, will have speech defects and neurologic deficits. They will present as gross and fine motor in coordination, ataxia, short
attention span, hearing loss and spasticity. With this discussion on Congenital Hypothyroidism, it is my aim to educate parents to submit their newborns to the expanded newborn screening at birth.