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Mauriac syndrome

From SNPedia

Mauriac syndrome is characterized by dwarfism, obesity and hepatomegaly in patients with insulin-dependent diabetes mellitus. It is associated with poor control of type-1 diabetes mellitus (T1DM) in adolescents, and may present as obesity, hepatomegaly, cushingoid facies and elevated transaminases. It is typically associated with growth failure and delayed pubertal maturation, although these can be reversed with good glycemic control.[PMID 23961505OA-icon.png]

A rare mutation in the PHKG2 gene, rs572115942(A), is reported as causative for Mauriac syndrome.