PE30.1-2 | Hypothyroidism — Summary & Reflection

KEY TAKEAWAYS

Hypothyroidism in children — key take-aways:

• Congenital hypothyroidism (1/1000–2000 births) is the commonest preventable intellectual disability. Most cases are thyroid dysgenesis (85%); rest are dyshormonogenesis, maternal causes, or transient.
• Clinical features in neonates: prolonged jaundice, macroglossia, large fontanelle, umbilical hernia, hypotonia, constipation, placid/sleepy infant. In older children: growth failure, weight gain, goitre (Hashimoto's), delayed bone age, school deterioration.
• Neonatal thyroid screening (heel-prick TSH, day 3–5): TSH >20–25 mU/L → recall for serum TSH + fT4. This is the critical early-detection tool.
• Diagnosis: Serum TSH elevated + fT4 low = overt CH. Anti-TPO antibodies + heterogeneous goitre = Hashimoto's acquired hypothyroidism.
• Treatment: Levothyroxine, weight-based. Neonates: 10–15 mcg/kg/day (highest priority — start within 2 weeks of birth). Monitor TSH 0.5–2.0 mU/L; reassess every 2–4 weeks initially.
• Prognosis: Excellent with early treatment; IQ and neurological outcome are normal when started within 2 weeks.

REFLECT

A mother whose newborn's screening test came back abnormal is anxious and confused. She asks: 'Does my baby have a disability? Will she be normal? How long does she need the tablet?' Reflect on how you would explain the situation — the diagnosis, the treatment, the prognosis — in a way that is honest, reassuring without false hope, and culturally sensitive. What additional support systems (paediatric endocrinologist, community nurse, parent support group) would you involve? How does this interaction illustrate the role of early screening in preventive paediatrics?