Endocrine Abstracts

JOINT3498

Introduction: Congenital central hypothyroidism (CCH) is a rare disorder caused by mutations in the TSHB gene, leading to impaired thyroid-stimulating hormone (TSH) production. This case report describes a male infant diagnosed with CCH, highlighting the clinical presentation, genetic analysis, and management.

Case Report: A 10 old-old boy was referred for evaluation due to jaundice, poor weight gain, and lethargy. He was born at term via an uneventful delivery, with normal birth weight and length. The parents were consanguineous, and there was no family history of thyroid disorders. On examination, the infant had mild hypotonia, prolonged jaundice, and a puffy face. Laboratory investigations revealed serum free T4: 0.34 ng/dl (normal: 0.8- 2 ng/dl), serum TSH: 1.9 mIU/mL (normal: 1.7–9.1 mIU/mL), glucose: 53 mg/dl, cortiso:10. µg/dl.A diagnosis of central congenital hypothyroidism was made. Molecular genetic testing identified a homozygous mutation in the TSHB gene, confirming the genetic basis of the condition. The infant was started on levothyroxine at 10 mg/kg/day, with regular follow-up to monitor growth and neurodevelopment. At 12 months of age, he showed significant improvement in activity levels, weight gain, and developmental milestones.

Conclusion: This case underscores the importance of considering TSHB mutations in children with unexplained hypothyroidism. Early intervention can lead to favorable outcomes, emphasizing the role of genetic analysis in diagnosing congenital endocrine disorders.