ReviewInternational journal of molecular sciences2018
Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.
Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Components of IGF-axis in growth disorders: a systematic review and patent landscape report.Endocrine · 2022Pooled it
- Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: A single-center experience.The Journal of clinical endocrinology and metabolism · 2026Observational
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Advances in Oral Biomacromolecule Therapies for Metabolic Diseases.Pharmaceutics · 2025Review
- Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in INSR gene.Frontiers in endocrinology · 2025Article
- Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor.Diabetology international · 2025Article
- Genotype-stratified treatment for monogenic insulin resistance: a systematic review.Communications medicine · 2023Article
- Systematic review of genotype-stratified treatment for monogenic insulin resistance.medRxiv : the preprint server for health sciences · 2023Article
- Incomplete phenotypic presentation in a girl with rare Rabson-Mendenhall syndrome.Acta diabetologica · 2023Article
- INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Medicine · 2022Article
- Activation of the insulin receptor by an insulin mimetic peptide.Nature communications · 2022Article
- Obesity I: Overview and molecular and biochemical mechanisms.Biochemical pharmacology · 2022Review
- Young-onset diabetes patients in Thailand: Data from Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN).Journal of diabetes investigation · 2022Article
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
- Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.Molecular syndromology · 2020Article
- Severe insulin resistance syndrome - A rare case report and review of literature.National journal of maxillofacial surgeryArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson⁻Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form of insulin resistance. Treatment of these cases is challenging, with the majority of DS patients dying within the first two years of life. rhIGF-I (mecasermin) has been reported to improve metabolic control and increase lifespan in DS patients. A case report and literature review were completed. We present a case involving a male patient with DS, harbouring a homozygous mutation in the INSR gene (c.591delC). Initial rhIGF-I application via BID (twice daily) injection was unsatisfactory, but continuous subcutaneous rhIGF-I infusion via an insulin pump improved weight development and diabetes control (HbA1c decreased from 10 to 7.6%). However, our patient died at 22 months of age during the course of a respiratory infection in in Libya. Currently available data in the literature comprising more than 30 treated patients worldwide seem to support a trial of rhIGF-I in SIR. rhIGF-I represents a treatment option for challenging SIR cases, but careful consideration of the therapeutic benefits and the burden of the disease is warranted. Continuous application via pump might be advantageous compared to single injections.
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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.