Murakami Takaaki, Usui Takeshi, Nakajima Akio, Mochida Yuki, Saito Sumio, Nambu Takuo, Kato Tomoko, Matsuda Yuki, Yonemitsu Shin, Muro Seiji, Oki Shogo
Department of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
Intern Med. 2015;54(19):2475-81. doi: 10.2169/internalmedicine.54.4886. Epub 2015 Oct 1.
A 35-year-old obese diabetic man presented with recurrent primary hyperparathyroidism during a three-year outpatient follow-up. He was clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) due to the presence of a pituitary adenoma and multiple glucagonomas. The glucagonomas may have affected his glycemic control. However, he did not demonstrate weight loss, suggesting that the patient's obesity could have obscured the early diagnosis of a glucagonoma. Genetic testing revealed a novel missense mutation at codon 561 in exon 10, resulting in an amino acid substitution from methionine to arginine (M561R) in the MEN1 gene. This mutation appeared to be responsible for the MEN1 pathogenicity.
一名35岁的肥胖糖尿病男性在三年的门诊随访期间出现复发性原发性甲状旁腺功能亢进。由于存在垂体腺瘤和多个胰高血糖素瘤，他被临床诊断为1型多发性内分泌肿瘤（MEN1）。这些胰高血糖素瘤可能影响了他的血糖控制。然而，他没有出现体重减轻，这表明患者的肥胖可能掩盖了胰高血糖素瘤的早期诊断。基因检测显示在第10外显子的561密码子处有一个新的错义突变，导致MEN1基因中的氨基酸从甲硫氨酸替换为精氨酸（M561R）。这种突变似乎是MEN1致病性的原因。
