Cretinism (Congenital Hypothyroidism)
Cretinism refers to a state of severe, untreated congenital hypothyroidism. Early detection via newborn screening is crucial, as irreversible neurological damage occurs rapidly without thyroid hormone replacement.
1. Clinical Features (The “6 Ps”)
- Prolonged jaundice: Due to immature liver function and delayed bilirubin clearance.
- Protruding tongue: Macroglossia is a classic finding.
- Poor feeding: Lethargy and disinterest in feeding.
- Puffy face/myxedema: Edematous appearance.
- Pot-bellied abdomen: Often associated with umbilical hernia and constipation.
- Profound developmental delay: Intellectual disability if not treated early.
2. Etiology and Diagnosis
| Factor | Details |
|---|---|
| Most Common Cause | Thyroid dysgenesis (e.g., ectopic thyroid, aplasia). |
| Diagnostic Marker | Elevated TSH (screening) and low Free T4. |
3. High-Yield Clinical Pearls
- Thyroid Replacement: Levothyroxine is the gold standard. Early treatment (within the first 2 weeks of life) is essential for normal intellectual development.
- Iodine Deficiency: Still a leading cause of endemic cretinism in many developing regions.
NEET PG Hint: Remember: The most common cause of congenital hypothyroidism is thyroid dysgenesis, not dietary iodine deficiency (in regions with adequate iodine programs). For more high-yield pediatric endocrinology protocols and free medical questions, visit mymedschool.org.