• Internal medicine · May 2024

    A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

    • Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, and Masayo Kagami.
    • Department of Diabetes and Endocrinology, Omi Medical Center, Japan.
    • Intern. Med. 2024 May 16.

    AbstractWe 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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