SAT-168 Hepatomegaly in an adult with type 1 diabetes mellitus: Mauriac syndrome still exists in 21st century

Abstract K. Fekri: None. Y. Soleimanifard: None. J.Y. Jun: None. We report a case of a 19-year-old male with poorly controlled type 1 diabetes mellitus (T1DM), childhood growth retardation, and multiple admissions for diabetic ketoacidosis (DKA) was found to have hepatomegaly and elevated liver transaminase. His hemoglobulin A1c (HbA1c) levels measured at 13.1% (reference range: 4.4-6.4%), massive hepatomegaly, significant hepatic enzyme derangement, and lactatemia. A comprehensive hepatic work-up was unremarkable, and he underwent a liver biopsy, which revealed microvesicular and macrovesicular steatosis with periportal and lobular inflammation consistent with hepatic glycogenosis of Mauriac syndrome (MS). A continuous subcutaneous insulin infusion or insulin pump was introduced. With improvement of HbA1c, lactate and liver transaminase levels became normalized. MS is a rare complication of T1DM and typically occurs in children who have early-onset T1DM. They usually present with poor glycemic control, constitutional growth retardation and short stature, cushingoid appearance, massive hepatomegaly, and liver enzyme abnormalities. However, not all patients show the full spectrum of symptoms, and the disease can also occur in adults. Because numerous autoimmune and metabolic storage diseases can affect liver metabolism, Mauriac syndrome is considered a diagnosis of exclusion in clinical practice. Abbreviations: T1DM: Type 1 diabetes mellitus, MS: Mauriac syndrome, HbA1c: hemoglobulin A1C, IGF: insulin growth factor, DKA: diabetic ketoacidosis, ALT: alanine aminotransferase, AST: aspartate aminotransferase, ALP: alkaline phosphatase, MODY: maturity onset diabetes of the young, GnRH: gonadotropin-releasing hormone. Saturday, June 1, 2024