ReviewEuropean journal of endocrinology2013
Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.
Review in European journal of endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women.Clinical endocrinology · 2025Guideline
- Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health.Nature genetics · 2025Article
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interference.Frontiers in endocrinology · 2025Review
- Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma.World journal of diabetes · 2024Article
- Changes in Cells Associated with Insulin Resistance.International journal of molecular sciences · 2024Review
- Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.Archives of endocrinology and metabolism · 2024Article
- A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features.Annals of pediatric endocrinology & metabolism · 2023Article
- Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.Genes & diseases · 2023Review
- INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Medicine · 2022Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Approach to androgen excess in women: Clinical and biochemical insights.Clinical endocrinology · 2022Review
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
- Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.Frontiers in endocrinology · 2021Article
- A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.BioMed research international · 2021Article
- Coexistence of ovarian serous papillary cystadenofibroma and type A insulin resistance syndrome in a 14-year-old girl: A case report.World journal of clinical cases · 2020Article
- Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.Hormone research in paediatrics · 2020Article
- Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.Journal of medical case reports · 2019Article
- Paradigm shift in the management of type B insulin resistance.Annals of translational medicine · 2018Article
- Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
'Insulin resistance' (IR) is a widely used clinical term. It is usually defined as a state characterised by reduced glucose-lowering activity of insulin, but it is also sometimes used as a shorthand label for a clinical syndrome encompassing major pathologies such as type 2 diabetes, polycystic ovary syndrome, fatty liver disease and atherosclerosis. Nevertheless, the precise cellular origins of IR, the causal links among these phenomena and the mechanisms underlying them remain poorly understood or contentious. Prevalent IR usually results from a genetic predisposition interacting with acquired obesity; however, even in some lean individuals, very severe degrees of IR can be observed. It is important to identify these people as they often harbour identifiable single-gene defects and they may benefit from molecular diagnosis, genetic counselling and sometimes tailored therapies. Observation of people with known single-gene defects also offers the opportunity to make inferences about the mechanistic links between IR and common pathologies. Herein, we summarise the currently known monogenic forms of severe IR, with an emphasis on the practical aspects of their recognition, diagnosis and management. In particular, we draw distinctions among the biochemical subphenotypes of IR that arise from primary adipose tissue dysfunction or from primary insulin signalling defects and discuss the implications of this dichotomy for management.
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Registered trials
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.