Early diagnosis for congenital hypothyroidism
clinical practice challenge in face of a normal neonatal screening test
Keywords:
Growth and development, Congenital hypothyroidism, Mental retardation, Neonatal screeningAbstract
The screening of newborn babies for congenital hypothyroidism has changed the
natural history of this disease. which, if not treated early, leads to permanent stunting
and/or impaired development, We describe the case of a male child with congenítal
hypothyroidism not detected by neonatal screening (collected 6 days after birth) and
only diagnosed during the second semester of life, despite having shown clinical
signs. A newbom screening normal for congenital hypothyroidism does not preclude
the development of the disease. Clinical follow-up must be maíntained and new
exams (T4 and TSH determinations) requested when suggestive symptoms appear in
order to avoid irreversible damages.
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References
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