%0 Case Reports
%T Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.
%A Halloun R
%A Habib C
%A Ekhilevitch N
%A Weiss R
%A Tiosano D
%A Cohen M
%J Eur J Med Genet
%V 64
%N 8
%D Aug 2021
%M 34051361
%F 2.465
%R 10.1016/j.ejmg.2021.104252
%X 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.