Mauriac Syndrome in the Era of Advanced Diabetes Care: A Narrative Mini-Review

Abstract

Mauriac syndrome is a rare but clinically significant complication of poorly controlled type 1 diabetes mellitus, characterized by growth failure, delayed puberty, and hepatomegaly due to excessive hepatic glycogen accumulation. Although once considered a historical entity of the pre–intensive insulin era, it continues to be reported sporadically in children, adolescents, and adults, largely through case reports and small series, with no robust estimates of true prevalence available. Recurrent cycles of hyperglycemia and supraphysiologic insulin exposure drive hepatic glycogen deposition, while limited evidence, primarily from small observational studies, suggests that genetic susceptibility may modulate individual risk. Recent work has identified heterozygous variants in genes involved in hepatic glycogen metabolism, particularly those encoding components of phosphorylase kinase (e.g., PHKG2 ), although their causal role remains incompletely defined. In many patients, hepatic glycogenosis is the sole manifestation and can mimic metabolic dysfunction-associated steatotic liver disease, leading to diagnostic delay. The condition is largely reversible with sustained improvement in glycemic control; however, overly rapid correction may precipitate microvascular complications. This mini-review summarizes current evidence on the epidemiology, clinical features, pathophysiology, diagnostic considerations, and management of Mauriac syndrome, highlighting its ongoing relevance in contemporary diabetes practice.