Successful Transition to Sulfonylurea for Relapsed Monogenic Diabetes Due to Rare 6q23.3 Duplication

JCEM Case Rep. 2024 Oct 16;2(10):luae180. doi: 10.1210/jcemcr/luae180. eCollection 2024 Oct.

Abstract

Transient neonatal diabetes mellitus (TNDM) due to 6q duplication usually presents in the first 4 months of life, resolves before 18 months of life, and recurs in adolescence or adulthood. Insulin is the first-line treatment for chromosome 6-related neonatal diabetes in infancy. While there is no ideal treatment for patients with relapsed TNDM, residual β-cell function after remission of neonatal diabetes indicates a potential role for insulin secretagogues. Patients with 6q24 duplication have been successfully transitioned from insulin to sulfonylureas (SUs) in adolescence. We present the first report to our knowledge of TNDM secondary to a rare 6q23.3 duplication for which reemergence of diabetes was successfully transitioned from insulin to SU treatment. The successful transition to SU improved glycemic control, cost-effectiveness, and overall quality of life, while decreasing occurrence of hypoglycemia.

Keywords: 6q23.3 duplication; 6q24 duplication; neonatal diabetes; sulfonylurea.

Publication types

  • Case Reports