Endocrine Abstracts

Introduction: Mauriac Syndrome is a rare complication of Type 1 Diabetes Mellitus (T1DM), associated with poor glycaemic control. Typical features include hepatomegaly, due to hepatic glycogenosis, hypercholesterolaemia, delayed growth and puberty and cushingoid features. Improvement in glycaemic control is associated with subsequent improvement in symptoms.

Case Report: A 16-year-old girl with T1DM was admitted with DKA and noted to have hepatomegaly and deranged LFTs (AST >3000 U/l and ALT>1000 U/l). She has a background of coeliac disease, hypothyroidism, learning difficulties and a complex social background. She had poor compliance with her diabetes management (HBA1C over 100 mmol/mol for two years (highest 170 mmol/mol)). Multi-professional support had not resulted in any improvement in her glycaemic control. Viral and autoimmune hepatitis screens were negative, and a liver ultrasound demonstrated a globally enlarged liver with mildly coarsened echotexture, normal echogenicity and contour and no focal lesions. Her cholesterol was raised at 11.9 mmol/l; her height had decreased from the 2nd to the 0.4th centile. A clinical diagnosis was made of Mauriac syndrome. She had a brief period of improvement in her diabetes management associated with a decrease in HBA1C to 91 mmol/mol, but this was not sustained and she had further admissions with severe DKA.

Conclusion: This case demonstrates how poor glycaemic control can lead to hepatomegaly, deranged LFTs, high cholesterol and delay in growth. A previous case report implicated a mutation in PHKG2, the catalytic subunit of the enzyme glycogen phosphorylase kinase (PhK), suggesting that poor glycaemic control may not be the only responsible factor for the development of Mauriac syndrome. The effect of chronic insulinisation, on the growth hormone–IGF-1 axis has been implicated in the pathogenesis of the growth failure. Although the more severe forms of this syndrome are rare in developed countries, the presence of hepatomegaly, subtle degrees of growth failure or the blunting of the pubertal growth spurt should alert clinicians to potential development of this rare complication.