Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

• DOI: 10.1297/cpe.29.179
• Publication Date: 2020-10-02T22:06:20Z
• Authors: Noboru Uchida; Takuma Ohnishi; Takuro Kojima; Tsutomu Takahashi; Yoshio Makita; Maki Fukami; Hironori Shibata; Tomonobu Hasegawa; Tomohiro Ishii
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Case Report

The overexpression of imprinted genes on chromosome 6q24 causes 6q24-related transient neonatal diabetes mellitus (6q24-TNDM). Most cases 6q24-TNDM show (DM) during the period, followed by relapse after puberty. These two courses DM are both characterized insulin insufficiency. However, there has been no previously reported case with resistance at relapse. We report a 10-yr-old Japanese girl relapsing 6q24-TNDM. In she had hyperglycemia and was treated injection until 2 mo age. After several years remission DM, her HbA1c level increased to 7.4% 10 yr Homeostasis model assessment (HOMA-IR) score high 6.2. starting metformin therapy, glycemic control improved along normalization HOMA-IR score. Using microsatellite marker analysis region array comparative genome hybridization, we diagnosed due paternally inherited duplication 6q24. data indicate that patients can develop resistance.