Gilbert Syndrome Presenting as Jaundice in an adolescent Boy : A Case Report

Abstract

Gilbert Syndrome (GS) is a hereditary condition characterized by intermittent hyperbilirubinemia due to a mutation in the UGT1A1 gene. This case report discusses a 12-year-old male presenting with jaundice and mild abdominal discomfort. Laboratory investigations revealed isolated unconjugated hyperbilirubinemia with normal liver function tests, leading to the suspicion of GS. Genetic testing confirmed a homozygous polymorphism in the UGT1A1 gene. Management included patient education and regular monitoring, with no specific treatment required. This case highlights the importance of considering GS in the differential diagnosis of jaundice in adolescents and the role of genetic testing in its confirmation. Early diagnosis can prevent unnecessary interventions and ensure appropriate management.