PDF(Pubmed)
Abstract：
48 XXYY syndrome is a rare polyploidy often compared with Klinefelter syndrome because of shared features such as tall stature, neurocognitive diseases, hypogonadism, and cardiac malformations. This population is believed to be predisposed to type 2 diabetes because of the presence of hypogonadism and central adiposity. We present a patient with XXYY syndrome who had an atypical and difficult-to-manage diabetes presentation. The patient was nonadherent to medication regimen with poorly controlled diabetes and hemoglobin A1c ranging from 12% to 14% (16.5-19.6 mmol/L). He lacked history of diabetes ketoacidosis, raising the question of maturity-onset diabetes of the young. Workup was negative for glutamic acid decarboxylase-65 and pancreatic islet cell antibody testing. Genetic testing for 5-gene panel for maturity-onset diabetes of the young was also negative. Distinct parts of his presentation make an accurate diabetes diagnosis very challenging. Clinicians should be aware of diabetes associations in patients with XXYY syndrome for optimization of care.
摘要：
48XXYY综合征是一种罕见的多倍体，通常与Klinefelter综合征相比，由于其共同特征，例如身材高大，神经认知疾病,性腺功能减退,心脏畸形.由于性腺机能减退和中枢肥胖的存在，该人群被认为易患2型糖尿病。我们介绍了一名患有XXYY综合征的患者，该患者具有非典型且难以管理的糖尿病表现。患者未坚持药物治疗方案，糖尿病控制不佳，血红蛋白A1c为12％至14％（16.5-19.6mmol/L）。他没有糖尿病酮症酸中毒病史,提出了年轻人成熟型糖尿病的问题。谷氨酸脱羧酶-65和胰岛细胞抗体检测结果为阴性。针对年轻人的成熟型糖尿病的5基因组的基因检测也是阴性的。他演讲的不同部分使准确的糖尿病诊断非常具有挑战性。临床医生应该意识到XXYY综合征患者的糖尿病相关性，以优化护理。
