Evidence map›Paper›PMID 41606799›Full record

Observational studyThe Journal of clinical endocrinology and metabolism2026

Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: A single-center experience.

Nicola Improda, Harshini Katugampola, Manuela Cerbone, Pratik Shah, Saji Alexander, Abigail Atterbury, Smail Hadj-Rabia, Catherine J Peters, Robert K Semple, Mehul Tulsidas Dattani

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In one paragraph

Observational study in The Journal of clinical endocrinology and metabolism, 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Nicola ImprodaNeuroscience Department, Neuroendocrine and Obesity Centre, Santobono-Pausilipon Children's Hospital, Naples 80139, Italy.ORCID 0000-0003-4235-0917
Harshini KatugampolaLondon Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital, London WC1N 1EH, UK.ORCID 0000-0003-3426-2511
Manuela CerboneLondon Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital, London WC1N 1EH, UK.
Pratik ShahPaediatric Endocrinology Department, The Royal London Children's Hospital and Queen Mary University of London, Barts Health NHS Trust, London E1 1BB, UK.ORCID 0000-0002-4402-8297
Saji AlexanderDepartment of Paediatric Endocrinology and Diabetes, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, UK.
Abigail AtterburyLondon Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital, London WC1N 1EH, UK.
Smail Hadj-RabiaDepartment of Dermatology and Reference Center for Rare Skin Diseases, Hôpital Necker-Enfants Malades, AP-HP Centre Université Paris Cité, Paris 75015, France.ORCID 0000-0001-6801-7106
Catherine J PetersLondon Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital, London WC1N 1EH, UK.
Robert K SempleCentre for Cardiovascular Science, The University of Edinburgh, Edinburgh EH16 4TJ, UK.
Mehul Tulsidas DattaniLondon Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital, London WC1N 1EH, UK.ORCID 0000-0002-0365-5809

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

contextDonohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) are extreme forms of insulin resistance (IR) caused by biallelic mutations in the insulin receptor gene. Recombinant human insulin-like growth factor-1 (rhIGF-1) treatment is often used but its long-term benefits and risks are still poorly delineated.

objectiveWe describe rhIGF-1 treatment outcomes of a cohort of patients with DS and RMS, and compare them to previously published patients.

methodsA single-center retrospective observational study with case note review was conducted. A literature search was performed for previously published DS and RMS patients treated with rhIGF-1.

resultsrhIGF-1 outcomes beyond 4 months have been reported for only 11 patients with DS and RMS to date. We provide outcome data for 3 more males, and report the long-term clinical course of a patient already described. Metabolic benefits of rhIGF-1 included improved glycemic control and fasting tolerance in early years of life, and some growth enhancement. Two patients exhibited poor response or intolerance to rhIGF-1 and died in infancy. The 2 longest-lived patients had progressive decompensation to diabetes mellitus, in 1 case despite long-term uninterrupted rhIGF-1 therapy. We also describe new features associated with severe insulin receptoropathies, such as cataract, liver hemangioma, and impaired hepatic protein synthesis.

conclusionThe phenotypes of DS and RMS are heterogeneous. Current treatment options remain unsatisfactory as high-dose rhIGF-1 exerts only limited beneficial effects and does not prevent decompensation to diabetes mellitus. More research is needed to identify alternative treatment strategies for extreme forms of IR.

Indexed as

Donohue SyndromeInsulin-Like Growth Factor IInsulin ResistanceAdolescentChildChild, PreschoolFemaleHumansInfantMaleRecombinant ProteinsRetrospective StudiesTreatment OutcomeInsulin-Like Growth Factor IRecombinant Proteinsdiabetes mellitusDonohue syndromehyperinsulinemic hyperglycemiainsulin resistanceRabson-Mendenhall syndromerecombinant human insulin-like growth factor-1

Identifiers

PMID41606799
PMCPMC13271778

What Socratic holds

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Registered trials

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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 Socratic graph.