Work

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

Year: 2024

Type: article

Abstract: 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.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.2743-23

Authors: Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, Masayo Kagami

Institutions: Date Red Cross Hospital, DNA Chip Research (Japan), National Research Institute for Child Health and Development

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4396941703

FWCI: 0.419

Cites: 32

Cited by: 2

Related to: 10