Pediatrics · Pediatric Endocrinology (Thyroid, CAH, Diabetes, Puberty Disorders)

A 10-day-old girl from a rural area presents with prolonged jaundice, constipation, umbilical hernia, large tongue, hoarse cry, and hypotonia. TSH is 150 mIU/L and free T4 is undetectable. What is the MOST critical reason for URGENCY in initiating treatment?

  • A To prevent neonatal hyperbilirubinemia complications
  • B To prevent early closure of cranial sutures
  • C To prevent irreversible intellectual disability and brain damage
  • D To prevent hypothermic crisis in the neonatal period
Correct answer: C. To prevent irreversible intellectual disability and brain damage

Explanation

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual disability. The neonatal brain is critically dependent on thyroid hormone for normal neuronal migration, myelination, and synaptic development. If untreated, CH causes irreversible brain damage — the severity correlates with delay in treatment initiation. Treatment (levothyroxine 10–15 mcg/kg/day) should be started within 2 weeks of birth (ideally within 7 days). Newborn screening programs detect CH at 48–72 hours via TSH/T4. While jaundice and hypothermia are concerns, the MOST critical urgency is prevention of permanent intellectual disability.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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