Endocrine Abstracts

JOINT763

Introduction: Mauriac syndrome is a rare complication of poorly controlled long-standing type 1 diabetes mellitus (T1DM). It is characterized by hepatomegaly due to glycogen accumulation, growth failure and delayed puberty. We present a case of Mauriac syndrome in a patient with T1DM and coeliac disease, emphasizing this uncommon association.

Case Presentation: A 14-year-old male with a 5-year history of T1DM and a 2-year history of coeliac disease presented with recurrent severe hypoglycemic episodes over the past two months. Despite adhering to insulin therapy (0.6 IU/Kg/day) and maintaining a gluten-free diet, his glycemic control remained inadequate, with an HbA1c level of 8%. Upon admission, his venous blood glucose was critically low at 0.35 g/L. The patient exhibited significant growth and pubertal delays, with a weight of 38 Kg, height of 1.45 m (-2 standard deviations), body mass index of 18 Kg/m², and Tanner stage 1. Physical examination revealed hepatomegaly, with a liver span of 19 cm. Laboratory investigations showed mixed dyslipidemia (total cholesterol: 4.5 g/L [1.7–1.99], triglycerides: 2.8 g/L [1–1.5]) and elevated liver enzymes (ALT 3x ULN; AST 2x ULN). Other laboratory findings included normal coagulation profile, bilirubin, renal function, serum iron, hemoglobin, and ferritin levels. Autoimmune markers such as antinuclear antibodies, anti-LKM1, anti-smooth muscle antibodies, and anti-mitochondrial antibodies were negative. TSH and cortisol levels were within normal ranges, and viral hepatitis serologies were negative. Both insulin and C-peptide levels, taken during hypoglycemia, were suppressed (insulin:0.6 uUI/ml[4-23]; C-peptide: 0.02ng/ml[0.9-3.7]). Abdominal ultrasound revealed homogeneous hepatomegaly. A liver biopsy confirmed extensive glycogen deposition using periodic acid-Schiff (PAS) staining, leading to a diagnosis of Mauriac syndrome.

Conclusion: The simultaneous occurrence of Mauriac syndrome and coeliac disease poses a distinct challenge in diabetes management, complicating efforts to achieve optimal glycemic control. Although it is uncommon, Mauriac syndrome should be considered in patients with poorly controlled T1DM, particularly when symptoms such as hepatomegaly and growth retardation are present. Effective glycemic management is crucial for minimizing glycogen accumulation and hepatomegaly, which in turn improve growth and promote normal pubertal development.