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

Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the MAGEL2 gene. Developmental delay, feeding difficulties, joint contractures and a high prevalence of autism spectrum disorders are characteristic of the syndrome. Endocrine abnormalities include mostly various pituitary hormonal deficiencies, presenting as hypoglycemia in 48% of reported cases. Persistent hyperinsulinism was only described in two siblings and responded to diazoxide treatment. 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 betacell insulin secretion, will improve our understanding of the abnormalities in glucose regulation in this syndrome.

Automated summary

Schaaf-Yang syndrome is a genetic disorder caused by mutations in the MAGEL2 gene, characterized by developmental delay, feeding difficulties, joint contractures, and a high prevalence of autism spectrum disorders. Endocrine abnormalities mainly include various pituitary hormonal deficiencies, but the rare case of persistent hyperinsulinism expands the clinical phenotype of the syndrome. Further research into the role of MAGEL2 in pancreatic insulin secretion regulation is crucial for understanding abnormalities in glucose regulation in this syndrome.