Akademik Veri Yönetim Sistemi
JCEM Case Reports, cilt.3, sa.11, 2025 (Scopus)
We report a case of metreleptin use in a patient with SHORT syndrome, a rare congenital disorder characterized by partial lipodystrophy, distinctive dysmorphic features, and severe insulin resistance. The patient was initially misdiagnosed with type 1 diabetes in early childhood because of insulin dependence, but genetic testing later confirmed a pathogenic PIK3R1 variant consistent with SHORT syndrome. Despite high-dose insulin therapy and adjunctive agents, glycemic control remained poor. Introduction of metreleptin led to a rapid and sustained improvement in glycemic control, with a marked reduction in insulin requirements. Notably, the patient did not exhibit hepatic steatosis or hypertriglyceridemia - features typically associated with metreleptin-responsive lipodystrophy - suggesting a broader therapeutic potential of the drug. Treatment interruption due to weight issues resulted in swift metabolic deterioration, including a sharp rise in glycosylated hemoglobin and increased insulin needs. Upon reinitiation, metabolic parameters rapidly improved. This case highlights the potential utility of metreleptin in treating severe insulin resistance in SHORT syndrome, even in the absence of classical metabolic complications. Further studies are needed to define its role in atypical lipodystrophy syndromes with unusual metabolic phenotypes.