A rare case of mauriac syndrome — ASN Events

A rare case of mauriac syndrome (#357)

Ali Sharafi 1 , Sheila Cook 1
  1. General medicine and Endocrinology, Toowoomba base hospital, Toowoomba, QLD, AUSTRALIA

We report a rare case of Mauriac syndrome in a 15-year-old boy with poorly controlled type one diabetes. He was diagnosed at the age 4 and due to multiple social issues, achieving good control has been impossible. He has presented with multiple diabetic ketoacidosis episodes (17 admissions in last 2 years). He was previously managed with novomix30/70 as he refused insulin Glargine partly because it stings him. He was found to have stunted growth with delayed puberty, hepatomegaly and cushingoid face. Examination showed a height of 156cm and a weight of 45.1kg with a BMI of 18.5. Mid-parental target height estimated to be 170cm. He has cushingoid features with round face and some abdominal distension due to fat deposition. He looked prepubertal with Tanner stage 1 and a testicular volume of 4ml's. His HbA1c was 9.5% with evidence of microalbuminuria. His bone age was behind chronological age. The Testosterone level was 3.3nmol/l(9-35) with LH at 6.3U/L(1-9) and FSH at 3.1U/L(1-5) and IGF-I was 24nmol/L(20-80). His liver was 19cm in size with increased echotexture in abdominal ultrasound. Based on the clinical history and findings, the diagnosis of Mauriac syndrome was made and the patient was switched over to basal bolus regime. He has been followed up for 6 months and has reduction of hepatomegaly. His growth and puberty is still delayed and is for further investigations. Mauriac, in 1930, described growth failure and maturational delay with hepatomegaly and abdominal distension in children with Type 1 diabetes, who were treated with short-acting insulin. With better glycaemic control, the incidence of this syndrome has reduced rapidly in the current era. We are going to discuss the pathogenesis of growth retardation, Cushinoid changes and hepatomegaly in Mauriac syndrome and management of this case.