Sugimoto Satoru, Morimoto Hidechika, Hasegawa Tatsuji, Kawabe Yasuhiro
Endocrinol Diabetes Metab Case Rep. 2025 Apr 24;2025(2). doi: 10.1530/EDM-25-0001. Print 2025 Apr 1.
We present a rare case of a 19-month-old boy with trisomy 13 who initially presented with hyperinsulinemic hypoglycemia (HH) at 1 month of age and later developed type 1 diabetes mellitus (T1DM). While cases of HH or T1DM alone have been reported in trisomy 13 patients, this is the first known report of both conditions occurring sequentially in a single individual. No previous reports have described the sequential progression from HH to T1DM in any population, highlighting this as an unprecedented clinical observation. This case underscores the complex nature of metabolic disorders in trisomy 13 and provides insights into the underlying mechanisms linking this chromosomal anomaly to the development of both HH and T1DM.
Sequential progression from HH to T1DM in both trisomy 13 and the general population is unprecedented. The coexistence and progression of HH and T1DM underscore the intricate and multifaceted nature of metabolic disorders in trisomy 13. Routine monitoring of blood glucose and C-peptide levels may facilitate the detection of metabolic transitions in patients with trisomy 13.
我们报告了一例罕见的19个月大患有13三体综合征的男孩，该患儿在1个月大时最初表现为高胰岛素血症性低血糖（HH），后来发展为1型糖尿病（T1DM）。虽然在13三体综合征患者中单独出现HH或T1DM的病例已有报道，但这是首例已知的两种病症在同一个体中先后出现的报告。此前没有任何报告描述过在任何人群中从HH到T1DM的相继进展情况，这突出表明这是一项前所未有的临床观察。该病例强调了13三体综合征中代谢紊乱的复杂性，并为将这种染色体异常与HH和T1DM的发生联系起来的潜在机制提供了见解。
在13三体综合征和普通人群中，从HH到T1DM的相继进展都是前所未有的。HH和T1DM的共存及进展强调了13三体综合征中代谢紊乱的复杂和多方面性质。对13三体综合征患者进行血糖和C肽水平的常规监测可能有助于检测代谢转变。
