Early-onset type 1 diabetes mellitus in a child with a pathogenic

Yu Ding, Qun Li, Qianwen Zhang, Shiyang Gao, Juan Li, Lingwen Ying, Ru-En Yao, Tingting Yu, Xiumin Wang

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Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

9 authors.

Yu Ding *Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0002-0833-924X

Qun Li *Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Qianwen ZhangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0001-8115-982X

Shiyang GaoDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0009-0005-1338-6891

Juan LiDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0009-0006-0005-2961

Lingwen YingDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0001-6240-9221

Ru-En YaoDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0003-4147-5291

Tingting YuDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0001-6030-9614

Xiumin WangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.ORCID https://orcid.org/0000-0002-9012-1273

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: The co-occurrence of early-onset type 1 diabetes mellitus (T1DM), acquired generalized lipodystrophy (AGL), and severe insulin resistance (SIR) is extremely rare, poses significant therapeutic challenges and no cases associated with pathogenic Cytotoxic T-lymphocyte-associated 4 ( Case Description: We performed genetic testing, flow cytometric immunophenotyping, leptin measurement and a 4.5-year clinical follow-up in a 3-year-3-month-old boy with early-onset T1DM, insulin allergy following initial insulin therapy, progressive lipodystrophy, SIR and mild hepatic dysfunction. We additionally conducted a systematic literature review to summarize Conclusions: This report established the first association between a pathogenic

Indexed as

acquired generalized lipodystrophy (AGL)case reportCTLA4 gene variantsevere insulin resistance (SIR)type 1 diabetes mellitus (T1DM)

Identifiers

PMID42724548

DOI10.21037/tp-2026-0532

PMCPMC13559137

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