ArticleJournal of diabetes investigation2020
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.
Article in Journal of diabetes investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- New classification and diagnostic criteria for insulin resistance syndrome.Diabetology international · 2022Guideline
- A multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).Journal of diabetes investigation · 2024Trial
- Type B insulin resistance syndrome coexisting with aplastic anemia responsive to early immunosuppressive therapy.JCEM case reports · 2026Article
- A pitfall in diagnosing type B insulin resistance syndrome: Suspected antibody interference in a patient with insulin allergy.Journal of diabetes investigation · 2026Article
- Long-term remission of type B insulin resistance syndrome with immunotherapy: A case report.Journal of diabetes investigation · 2026Article
- Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene.Diabetology & metabolic syndrome · 2025Article
- Management of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.Journal of diabetes investigation · 2025Review
- PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.Journal of diabetes investigation · 2025Article
- A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.Journal of diabetes investigation · 2025Article
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- The Use of Dapagliflozin in the Treatment of Children With Severe Insulin Resistance.Pediatric diabetes · 2025Article
- Identification of causative gene variants for patients with known monogenic diabetes using a targeted next-generation sequencing panel in a single-center study.Diabetology international · 2024Article
- A Multicenter, Open-Label, Single-Arm Trial of the Efficacy and Safety of Empagliflozin Treatment for Refractory Diabetes Mellitus with Insulin Resistance (EMPIRE-01).Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Article
- Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenicClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- A Qualitative Research Study of Experiences and Perceptions of People Living with Insulin Resistance Syndrome or Lipoatrophic Diabetes in Japan.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2023Article
- A family with type A insulin resistance syndrome caused by a novel insulin receptor mutation.Endocrinology, diabetes & metabolism case reports · 2023Article
- Incomplete phenotypic presentation in a girl with rare Rabson-Mendenhall syndrome.Acta diabetologica · 2023Article
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Insulin signaling and its application.Frontiers in endocrinology · 2023Review
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
AIMS/
introductionInsulin resistance syndrome (IRS) of type A or B is triggered by gene abnormalities of or autoantibodies to the insulin receptor, respectively. Rabson-Mendenhall/Donohue syndrome is also caused by defects of the insulin receptor gene (INSR), but is more serious than type A IRS. Here, we carried out a nationwide survey of these syndromes in Japan. MATERIALS AND
methodsWe sent questionnaires to a total of 1,957 academic councilors or responsible individuals at certified facilities of the Japan Diabetes Society, as well as at the department pediatrics or neonatology in medical centers with >300 beds.
resultsWe received 904 responses with information on 23, 30 and 10 cases of type A or B IRS and Rabson-Mendenhall/Donohue syndrome, respectively. Eight cases with type A IRS-like clinical features, but without an abnormality of INSR, were tentatively designated type X IRS, with five of these cases testing positive for PIK3R1 mutations. Fasting serum insulin levels at diagnosis (mean ± standard deviation) were 132.0 ± 112.4, 1122.1 ± 3292.5, 2895.5 ± 3181.5 and 145.0 ± 141.4 μU/mL for type A IRS, type B IRS, Rabson-Mendenhall/Donohue syndrome and type X IRS, respectively. Type A and type X IRS, as well as Rabson-Mendenhall/Donohue syndrome were associated with low birthweight. Type B IRS was diagnosed most frequently in older individuals, and was often associated with concurrent autoimmune conditions and hypoglycemia.
conclusionsInformation yielded by this first nationwide survey should provide epidemiological insight into these rare conditions and inform better healthcare for affected patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.