Congenital Hypothyroidism Differential Diagnoses

Updated: May 02, 2023
  • Author: Maala S Daniel, MBBS; Chief Editor: Sasigarn A Bowden, MD, FAAP  more...
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Diagnostic Considerations

Neonatal hypothyroxinemia

Premature and sick infants have lower levels of thyroid hormone than term infants but usually do not have elevated thyroid-stimulating hormone (TSH) levels. [47, 48] Reference ranges appropriate to the infant's gestational age should be used to avoid confusing this with hypothyroidism. A meta-analysis suggests that treatment of these neonates with thyroxine is futile. [49]

Transient neonatal hypothyroidism and hyperthyrotropinemia

Ingestion of excessive amounts of iodine, [50] or of goitrogens such as lithium, [51] thioamides, [33, 52] or amiodarone, [53, 54] can cause a temporary hypothyroid state. Maternal antibodies to the TSH receptor can also cause temporary hypothyroidism. [2, 3, 22] This may require treatment with levothyroxine for a period of days to months. The etiology of transient hypothyroidism is often unclear. [5, 55, 56] Preterm (< 35 wk gestation) infants may have profound abnormalities of thyroid function at birth, but they may not have permanent hypothyroidism, even infants with birth weights greater than 1500 g. [57]

Differential Diagnoses