Congenital Hypothyroidism- Neonatal Screening

Swati Gadewar (Kolpuru)
Congenital Hypothyroidism - Clinical Manifestations
The clinical manifestations depend on the functional state of the thyroid. They are generally absent at birth and appear gradually over about 6 weeks.

Early manifestations:
- Lethargy
- Poor feeding
- Inactivity
- Respiratory distress
- Hypotonia
- Large anterior and posterior fontanelles
- Pallor
- Peripheral cyanosis
- Hoarse cry
- Constipation
- Hypothermia
- Prolonged physiologic jaundice

Late manifestationsLate manifestations:
- Depressed nasal bridge
- Narrow forehead
- Puffy eyelids
- Thick, dry and coarse skin
- Coarse hair
- Large tongue
- Abdominal distension
- Umbilical hernia
- Poor reflexes
- Bradycardia
- Hypotension
- Pot belly
- Diminished pulse pressure
- Anemia not responding to iron
- Sensorineural hearing loss
- Slipped capital femoral epiphysis can occur
- Kocher-Debre-Semelaign syndrome, which consists of generalized muscular hypertrophy giving the child a "Herculean" appearance.
- Growth retardation
- Mental retardation
- Delayed sexual maturation

Ancillary laboratory manifestations:
- Delayed bone age
- Epiphyseal dysgenesis
- Low complexes in the EEG and ECG
- Cardiomegaly on X-ray chest indicating myxedema
- Enlargement of sella turcica

Congenital Hypothyroidism- Neonatal Screening Congenital Hypothyroidism- Neonatal Screening 12/12/2001
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