Central congenital hypothyroidism caused by TSHB gene mutation: a case report

OBJECTIVES: We present a case of central congenital hypothyroidism that was diagnosed clinically in the second month of life, after a false negative neonatal screening test. CASE PRESENTATION: gene, associated with central congenital hypothyroidism. Levothyroxine was initiated, with rapid normalization of free T4 levels and marked clinical improvement. CONCLUSIONS: Clinical signs of congenital hypothyroidism are becoming increasingly uncommon, due to early screening, diagnosis and treatment; it is still crucial to recognize them, since central congenital hypothyroidism can be missed during routine neonatal screening. This case underscores the importance of starting hormone replacement therapy as early as possible to reduce systemic and cognitive complications.