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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.
摘要：
沙夫阳综合征是由MAGEL2基因的父系等位基因突变引起的遗传性疾病。发育延迟，喂养困难，关节挛缩和自闭症谱系障碍的高患病率是该综合征的特征。内分泌异常主要包括各种垂体激素缺乏，48%的报告病例表现为低血糖。仅在两个兄弟姐妹中描述了持续的高胰岛素血症，并且对二氮嗪治疗有反应。我们描述了一例Schaaf-Yang综合征婴儿的独特病例，该病例表现为对二氮嗪无反应的持续高胰岛素血症。此外，我们对MAGEL2相关疾病中描述的内分泌异常进行了文献综述.所呈现的病例扩展了Schaaf-Yang综合征的临床表型，并强调了对这些患者进行内分泌随访的重要性。进一步研究MAGEL2在调节胰腺β细胞胰岛素分泌中的作用，将提高我们对这种综合征中葡萄糖调节异常的认识。
