Endocrine Abstracts

Introduction: Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1), characterized by hepatomegaly (hepatic glycogenosis), puberty and growth delay, transaminase elevation and reduction of IGF1 (insulin-like growth factor 1). MS is more common in children and adolescents with poor glycemic control.

Case Report: A 17-years-old Type 1 diabetic boy was admitted for evaluation of growth retardation. He was diagnosed to have T1DM 15 years back. The patient maintained poor glycemic control since childhood, presenting an elevated glycated hemoglobin rate persistently higher than 10% and recurrent episodes of ketosis. Examination showed that height was 131 cm (less than 3rd percentile), weight 28 kg (less than 3rd percentile) and body mass index of 16.3. Tanner stage was G2P1. He had abdominal distension with hepatomegaly. Investigations showed HbA1c 15.2% and IGF-1 65.7 ng/ml. Liver function test showed AST 514 IU/l, ALT 277 IU/l and total bilirubin 3 mg/l. His renal function was normal. Viral hepatitis serologies and autoimmune study were negative. Ultrasound abdomen revealed hepatomegaly with a liver span of 15 cm. A liver biopsy revealed numerous hepatocytes with glycogenated nuclei, abundant cytoplasmic and nuclear glycogen deposits, and moderate portal fibrosis. Based on the clinical history and investigations, the final diagnosis of Mauriac syndrome was made. A stronger multidisciplinary approach (involving endocrinology, nutrition and psychology) was attempted in order to improve glycemic control. He was followed-up for 2 months. He had shown a reduction in hepatomegaly, a normalization of transaminase concentrations with a decrease of HbA1c concentration (from 15.2% to 11%).

Discussion: In poorly controlled DM1 patients, the hyperglycemic periods lead to accumulation of glycogen in the hepatocytes causing hepatomegaly and liver enzyme elevation. It is imperative to exclude other causes of hepatomegaly and elevated transaminase levels, including autoimmune hepatitis, viral hepatitis, hemochromatosis, and Wilson disease. The pathogenesis of growth retardation is not clear but is thought to be multifactorial. Growth failure, delayed puberty and hepatomegaly in Mauriac’s syndrome improves with glycemic control.

Conclusion: Although Mauriac syndrome is rare, it should be still considered in Type 1 diabetic children with growth impairment and liver disease. Optimal glycaemic control may play an important role in preventing such an occurrence.