Sequential development of hyperinsulinemic hypoglycemia and type 1 diabetes mellitus in a male child with trisomy 13.

Abstract

Summary: 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.

Learning points: 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.