{Reference Type}: Case Reports
{Title}: Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.
{Author}: Halloun R;Habib C;Ekhilevitch N;Weiss R;Tiosano D;Cohen M;
{Journal}: Eur J Med Genet
{Volume}: 64
{Issue}: 8
{Year}: Aug 2021
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2021.104252
{Abstract}: 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 beta-cell insulin secretion, will improve our understanding of the abnormalities in glucose regulation in this syndrome.