Endocrine Abstracts

JOINT3335

Background: Mauriac syndrome, a rare and severe complication of poorly controlled type 1 diabetes mellitus, is characterized by growth retardation, delayed puberty, and hepatomegaly. We report the case of a patient with Mauriac syndrome and autoimmune hepatitis.

Observation: A 16-year-old patient diagnosed with type 1 diabetes for 4 years was admitted to the endocrinology department of Charles Nicolle Hospital in Tunis for further evaluation of hepatomegaly. The patient’s diabetes management history revealed poorly controlled diabetes, resulting in frequent hospital admissions due to ketoacidosis decompensations. On physical examination, the patient presented with severe underweight and growth retardation, with a height of 144cm (-3.5 SD) and a weight of 20kg (-3.2 SD) as well as a delayed puberty (Stage I according to Tanner classification). The liver span was 14cm and the liver enzyme levels were three times the upper limit of normal: the level of glutamic-oxaloacetic transaminase (SGOT) was at 102 UI/l [5-34 UI/l], and the level of serum glutamic-pyruvic transaminase (SGPT) at 147 UI/l [10-49 UI/l]. The investigation has excluded drug-induced hepatitis, and the hepatitis C and B virus serology was negative. The immunological work-up revealed negative anti-nuclear and anti-mitochondria antibodies while testing positive for anti-smooth muscle and anti-LKM1 antibodies. The liver biopsy identified an inflammatory infiltrate indicative of chronic hepatitis with mild interface hepatitis and also revealed an accumulation of glycogen in the hepatocytes, suggestive of Mauriac syndrome. Nevertheless, the possibility of autoimmune hepatitis remains under consideration due to the individual’s personal history of autoimmunity, as well as the positive antibody findings.

Conclusion: Mauriac syndrome, a rare complication of chronic hyperglycemia and hyperinsulinism, presents a diagnostic challenge, especially when hepatic autoimmunity indicators are present. optimizing diabetic control can help confirm the diagnosis over time.