Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - a case report and review of the literature

We describe a unique case of an infant with Schaaf-Yang syndrome that presented with persistent hyperinsulinism unresponsive to diazoxide. Furthermore, we conducted a literature review of the endocrine abnormalities described in MAGEL2 related disorders. The case presented expands the clinical phenotype of Schaaf-Yang syndrome and emphasizes the importance of endocrine follow-up in these patients. Further investigation into the role of MAGEL2 in the regulation of pancreatic beta-cell insulin secretion, will improve our understanding of the abnormalities in glucose regulation in this syndrome.PMID:34051361 | DOI:10.1016/j.ejmg.2021.104252
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research