We herein present the case of a 21-year-old male Japanese diabetic patient with Temple syndrome, caused by maternal uniparental disomy of chromosome 14. The patient was overweight and had type 2 diabetes, dyslipidemia, metabolic dysfunction-associated steatotic liver disease, and microalbuminuria. He had an increased fat mass in the truncal region and a decreased lean mass throughout the body. This may lead to insulin resistance due to the absence of delta-like homolog 1 (DLK1) and retrotransposon gag-like 1 (RTL1). The patient had experienced social withdrawal at home (hikikomori in Japanese), had poorly controlled type 2 diabetes, and was overweight despite receiving diet therapy and oral hypoglycemic agents.
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Iwanishi et al. (2024) studied this question.
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