Research & Literature

Donohue syndrome: a new case with a new complication.

Odeh R, Alassaf A, Al-Qudah AA

Journal of pediatric endocrinology & metabolism : JPEM 2015; (28(7-8)):951-4.

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.

Carmody D, Ladsaria SS, Buikema RK, et al.

Diabetic medicine : a journal of the British Diabetic Association 2016; (33(3)):e8-e12 doi:10.1111/dme.12884.

Hypertrophic cardiomyopathy in Donohue syndrome.

Termote JU, Breur JM, de Vroede MA

Cardiology in the young 2016; (26(4)):815-8 doi:10.1017/S1047951115002437.

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

Ben Abdelaziz R, Ben Chehida A, Azzouz H, et al.

European journal of medical genetics 2016; (59(1)):16-9.

Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating.

Nijim Y, Awni Y, Adawi A, Bowirrat A

Medicine 2016; (95(6)):e2710 doi:10.1097/MD.0000000000002710.

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

Azzabi O, Jilani H, Rejeb I, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(6)):753-6.

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report.

Moore MM, Bailey AM, Flannery AH, Baum RA

Journal of pharmacy practice 2017; (30(4)):468-475 doi:10.1177/0897190016645036.

A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism.

Krishnamurthy M, Pingul MM

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(10)):1201-1205.

Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.

Kostopoulou E, Shah P, Ahmad N, et al.

Pediatric diabetes 2017; (18(8)):839-843 doi:10.1111/pedi.12483.

Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.

Wei C, Burren CP

Pediatric diabetes 2017; (18(8)):835-838 doi:10.1111/pedi.12486.

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.

Tsuji-Hosokawa A, Takasawa K, Nomura R, et al.

Pediatric diabetes 2017; (18(8)):917-924 doi:10.1111/pedi.12508.

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

Hosoe J, Kadowaki H, Miya F, et al.

Diabetes 2017; (66(10)):2713-2723 doi:10.2337/db17-0301.

Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome.

Qin L, Li X, Hou Q, et al.

Clinica chimica acta; international journal of clinical chemistry 2017; (473()):26-31 doi:10.1016/j.cca.2017.08.007.

Donohue syndrome: A review of literature, case series, and anesthetic considerations.

Kirkwood A, Stuart G, Harding L

Paediatric anaesthesia 2018; (28(1)):23-27 doi:10.1111/pan.13273.

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.

Innaurato S, Brierley GV, Grasso V, et al.

Pediatric diabetes 2018; (19(4)):670-674 doi:10.1111/pedi.12632.

A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.

Kirel B, Bozdağ Ö, Köşger P, et al.

Turk pediatri arsivi 2017; (52(4)):226-230 doi:10.5152/TurkPediatriArs.2017.3193.

"We're stuck with what we've got": The impact of lipodystrophy on body image.

Adams C, Stears A, Savage D, Deaton C

Journal of clinical nursing 2018; (27(9-10)):1958-1968 doi:10.1111/jocn.14342.

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.

Plamper M, Gohlke B, Schreiner F, Woelfle J

International journal of molecular sciences 2018; (19(5)) doi:10.3390/ijms19051268.

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.

Takasawa K, Tsuji-Hosokawa A, Takishima S, et al.

Journal of diabetes 2019; (11(1)):46-54 doi:10.1111/1753-0407.12797.

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects.

Gambineri A, Zanotti L

Nucleus (Austin, Tex.) 2018; (9(1)):392-397 doi:10.1080/19491034.2018.1509659.

Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young People

Özen S, Akıncı B, Oral EA

Journal of clinical research in pediatric endocrinology 2020; (12(1)):17-28 doi:10.4274/jcrpe.galenos.2019.2019.0124.

Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.

Lin L, Chen C, Fang T, et al.

Journal of medical case reports 2019; (13(1)):347 doi:10.1186/s13256-019-2304-4.

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Sethi A, Foulds N, Ehtisham S, et al.

Journal of clinical research in pediatric endocrinology 2020; (12(4)):420-426 doi:10.4274/jcrpe.galenos.2019.2019.0106.

Evolving Evidence of Diabetic Ketoacidosis in Patients Taking Sodium-Glucose Cotransporter 2 Inhibitors.

Fleming N, Hamblin PS, Story D, Ekinci EI

The Journal of clinical endocrinology and metabolism 2020; (105(8)) doi:10.1210/clinem/dgaa200.

Familial Partial Lipodystrophy (FPLD): Recent Insights.

Bagias C, Xiarchou A, Bargiota A, Tigas S

Diabetes, metabolic syndrome and obesity : targets and therapy 2020; (13()):1531-1544 doi:10.2147/DMSO.S206053.

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.

Aghababaie AS, Ford-Adams M, Buchanan CR, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(6)):809-812 doi:10.1515/jpem-2019-0503.

Type B insulin resistance syndrome associated with connective tissue disease and psoriasis.

Łebkowska A, Krentowska A, Adamska A, et al.

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

Rabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.

Al-Kandari H, Al-Abdulrazzaq D, Al-Jaser F, et al.

Primary care diabetes 2021; (15(1)):175-177 doi:10.1016/j.pcd.2020.07.012.

Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.

Verdecchia F, Akcan N, Dastamani A, et al.

Hormone research in paediatrics 2020; (93(6)):396-401 doi:10.1159/000510462.

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism.

Perge K, Massoud M, Gauthier-Moulinier H, et al.

Molecular syndromology 2020; (11(4)):223-227 doi:10.1159/000509837.

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

McInerney-Leo AM, Duncan EL

Frontiers in endocrinology 2020; (11()):628946 doi:10.3389/fendo.2020.628946.

A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.

Jin J, Liang X, Wei J, Xu L

BioMed research international 2021; (2021()):8878149 doi:10.1155/2021/8878149.

Insulin-like growth factors: Ligands, binding proteins, and receptors.

LeRoith D, Holly JMP, Forbes BE

Molecular metabolism 2021; (52()):101245 doi:10.1016/j.molmet.2021.101245.

Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.

Zhou Q, Yu J, Yuan X, et al.

Frontiers in endocrinology 2021; (12()):606964 doi:10.3389/fendo.2021.606964.

Severe insulin resistance syndrome - A rare case report and review of literature.

Joshi SR, Pendyala GS, Shah P, et al.

National journal of maxillofacial surgery 2021; (12(1)):100-105 doi:10.4103/njms.NJMS_55_20.

Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.

Dos Santos SS, Ramaldes LA, Gabbay MAL, et al.

Hormone research in paediatrics 2021; (94(7-8)):313-316 doi:10.1159/000519613.

Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.

Okawa MC, Cochran E, Lightbourne M, Brown RJ

The Journal of clinical endocrinology and metabolism 2022; (107(3)):e1032-e1046 doi:10.1210/clinem/dgab782.

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

Rojek A, Wikiera B, Noczynska A, Niedziela M

Journal of clinical research in pediatric endocrinology 2023; (15(3)):312-317 doi:10.4274/jcrpe.galenos.2021.2021.0256.

New classification and diagnostic criteria for insulin resistance syndrome.

Ogawa W, Araki E, Ishigaki Y, et al.

Endocrine journal 2022; (69(2)):107-113 doi:10.1507/endocrj.EJ21-0725.

Clinical Effects of Sodium-Glucose Transporter Type 2 Inhibitors in Patients With Partial Lipodystrophy.

Bansal R, Cochran E, Startzell M, Brown RJ

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022; (28(6)):610-614 doi:10.1016/j.eprac.2022.03.006.

New classification and diagnostic criteria for insulin resistance syndrome.

Ogawa W, Araki E, Ishigaki Y, et al.

Diabetology international 2022; (13(2)):337-343 doi:10.1007/s13340-022-00570-5.

Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene.

You W, Yang J, Wang L, et al.

Frontiers in endocrinology 2022; (13()):895424 doi:10.3389/fendo.2022.895424.

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome.

Zhao L, Dai H, Zhang Q, et al.

Human heredity 2022; (87(2)):60-68 doi:10.1159/000525223.

Lipodystrophy for the Diabetologist-What to Look For.

Patni N, Garg A

Current diabetes reports 2022; (22(9)):461-470 doi:10.1007/s11892-022-01485-w.

Describing the natural history of clinical, biochemical and radiological outcomes of children with familial partial lipodystrophy type 2 (FPLD2) from the United Kingdom: A retrospective case series.

Zhong ZX, Harris J, Wilber E, et al.

Clinical endocrinology 2022; (97(6)):755-762 doi:10.1111/cen.14806.

Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.

Aftab S, Shaheen T, Asif R, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(11)):1429-1432 doi:10.1515/jpem-2022-0214.

[Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy].

Melikyan MA, Ivannikova TE, Milovanova NV, et al.

Problemy endokrinologii 2022; (68(5)):79-86 doi:10.14341/probl13121.

A family with type A insulin resistance syndrome caused by a novel insulin receptor mutation.

Horikawa O, Ugi S, Takayoshi T, et al.

Endocrinology, diabetes & metabolism case reports 2023; (2023(2)).

Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation

Poon SWY, Chung BHY, Wong MSC, Tsang AMC

Journal of clinical research in pediatric endocrinology 2025; (17(1)):115-119 doi:10.4274/jcrpe.galenos.2023.2022-12-10.

Systematic review of genotype-stratified treatment for monogenic insulin resistance.

Semple RK, Patel KA, Auh S, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.04.17.23288671.

Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.

Iqbal J, Jiang HL, Wu HX, et al.

Genes & diseases 2023; (10(5)):1846-1856 doi:10.1016/j.gendis.2022.03.016.

Clinical Features and Outcome Analysis of Type B Insulin Resistance Syndrome: A Single-Center Study in China.

Zhao L, Li W, Liu L, et al.

The Journal of clinical endocrinology and metabolism 2023; (109(1)):e175-e181 doi:10.1210/clinem/dgad461.

Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?

Calcaterra V, Zuccotti G, Mari A, et al.

Clinical obesity 2023; (13(6)):e12619 doi:10.1111/cob.12619.

Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study.

Nicolescu CR, Cremillieux C, Stephan JL

Case reports in pediatrics 2023; (2023()):7799234 doi:10.1155/2023/7799234.

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy.

Mosbah H, Vatier C, Andriss B, et al.

European journal of endocrinology 2024; (190(1)):23-33 doi:10.1093/ejendo/lvad169.

Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys.

Crowley MT, Goulden E, Sanchez-Lechuga B, et al.

Clinical diabetes and endocrinology 2024; (10(1)):5 doi:10.1186/s40842-024-00166-9.

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.

Rojas Velazquez MN, Blanco F, Ayala-Lugo A, et al.

International journal of molecular sciences 2024; (25(6)) doi:10.3390/ijms25063143.

Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Vatier C, Vigouroux C, Mosbah H

Annales d'endocrinologie 2024; (85(3)):190-194 doi:10.1016/j.ando.2024.05.019.

Rabson-Mendenhall Syndrome: Analysis of the Clinical Characteristics and Gene Mutations in 42 Patients.

Gong W, Chen W, Dong J, Liao L

Journal of the Endocrine Society 2024; (8(8)):bvae123 doi:10.1210/jendso/bvae123.

Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.

Foglino R, Barbetti F, Morotti E, et al.

Frontiers in genetics 2024; (15()):1414451 doi:10.3389/fgene.2024.1414451.

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.

Patni N, Chard C, Araújo-Vilar D, et al.

Orphanet journal of rare diseases 2024; (19(1)):263 doi:10.1186/s13023-024-03245-3.

Case Report: Functional characterization of a missense variant in INSR associated with hypoketotic hypoglycemia.

Guzman H, Mitteer LM, Chen P, et al.

Frontiers in pediatrics 2024; (12()):1493280 doi:10.3389/fped.2024.1493280.

Health-related Quality of Life, Social, and Psychological Well-Being of 109 Adult Patients With Genetic Lipodystrophy.

Mosbah H, Vatier C, Andriss B, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(8)):e2532-e2543 doi:10.1210/clinem/dgae837.

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor.

Imamovic M, Vågberg M, Cederquist K, Dahlqvist P

JCEM case reports 2024; (2(12)):luae221 doi:10.1210/jcemcr/luae221.

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys).

Prehn EL, Crowley M, Fennell D, et al.

Endocrinology, diabetes & metabolism case reports 2025; (2025(1)).

Insulin receptor variants: Extending the traditional Mendelian spectrum.

Collin-Chavagnac D, Saint-Martin C, Bedidi L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(6)):101404 doi:10.1016/j.gim.2025.101404.

Rabson-Mendenhall Syndrome Nearly Misdiagnosed as Type 1 Diabetes Mellitus: A Case Report.

Almotawa F, Mushiba AM, Alqahtani N, Mashi A

Cureus 2025; (17(3)):e81190 doi:10.7759/cureus.81190.

Monogenic diabetes: An evidence-based clinical approach.

Bhattacharya S, Fernandez CJ, Kamrul-Hasan ABM, Pappachan JM

World journal of diabetes 2025; (16(5)):104787 doi:10.4239/wjd.v16.i5.104787.

Donohue syndrome with a homozygous INSR exon 14 deletion: a case report.

Almazán Monroy JD, Valle Martinez AJ, Milla Salguero SE, Perdomo Domínguez ES

Oxford medical case reports 2025; (2025(9)):omaf183 doi:10.1093/omcr/omaf183.

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance.

Aslanzadeh V, Brierley GV, Kumar R, et al.

Nature communications 2025; (16(1)):9143 doi:10.1038/s41467-025-64178-4.

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

Lin X, Xu ZY, Xie LJ, et al.

Gene 2026; (979()):149934 doi:10.1016/j.gene.2025.149934.

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

Improda N, Katugampola H, Cerbone M, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(7)):2049-2063 doi:10.1210/clinem/dgag031.

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.

Wang K, Zheng J, Gu LC, et al.

World journal of diabetes 2026; (17(1)):113821 doi:10.4239/wjd.v17.i1.113821.

Clinical Guidelines for the Diagnosis and Management of Generalized and Partial Lipodystrophies: A Position Statement Endorsed by the Hellenic Endocrine Society.

Lambadiari V, Bargiota A, Kanaka-Gantenbein C, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2026; (32(6)):1008-1016 doi:10.1016/j.eprac.2026.02.014.

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.

Marcelino do Nascimento R, Dos Santos A, Guadagnini D, et al.

Frontiers in endocrinology 2026; (17()):1716020 doi:10.3389/fendo.2026.1716020.

Type B insulin resistance with glycemic extremes: a case report and literature review.

Ngo EMT, Rowe JM, Chillon TS, et al.

Frontiers in endocrinology 2026; (17()):1852784 doi:10.3389/fendo.2026.1852784.

A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation.

Ji C, Zheng X, Wang Q, Chen Z

Frontiers in endocrinology 2026; (17()):1840942 doi:10.3389/fendo.2026.1840942.

Exploring the therapeutic response to sodium-glucose cotransporter-2 inhibition in INSR-related insulin resistance monogenic diabetes: case-based analysis and narrative review.

Franklin D, Mahony J, Patel C, Triay J

Acta diabetologica 2026; doi:10.1007/s00592-026-02795-1.

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

Al Eisa A, Aldayhani AH

The American journal of case reports 2026; (27()):e953067 doi:10.12659/AJCR.953067.

Case Report: Tirzepatide improves glycemic control in Rabson-Mendenhall syndrome.

Araújo-Vilar D, Vela A, Castro AI, et al.

Frontiers in endocrinology 2026; (17()):1945251 doi:10.3389/fendo.2026.1945251.

An INSR-BECN1-KIAA0825 complex prevents hepatocytic insulin receptor secretion via extracellular vesicles against monogenic diabetes.

Kuramoto K, Chen M, He C

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.09.13.751259.

Family with two novel in cis INSR gene variants: Phenotypic evolution with age.

Sotiriou G, Mertzanian A, Raptopoulou ME, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2026; (35(4)):351-356 doi:10.1297/cpe.2026-0014.

Refractory diabetic ketoacidosis in Rabson-Mendenhall syndrome due to a novel mutation: contrasting outcomes in a sibling - case series.

Azarudeen JM, Narayanan R, Kar A, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; doi:10.1515/jpem-2026-0389.

Systemic Diseases and the Eye: A Translational Perspective on Diabetes.

Capobianco M, Zeppieri M, Nicolosi SG, et al.

Chronic diseases and translational medicine 2026; doi:10.1002/cdt3.70071.

Comprehensive assessment of the genotype-phenotype spectrum and treatment for monoallelic insulin receptoropathy in a cohort of 505 people.

Brown RJ, Xu J, Luan J, et al.

Research square 2026; doi:10.21203/rs.3.rs-10884175/v1.

From genotype to phenotype: reverse phenotyping of a novel INSR variant in a large family with hyperinsulinemic hypoglycemia.

Soltanova L, Erbilgin Y, Menkli Y, et al.

Journal of applied genetics 2026; doi:10.1007/s13353-026-01121-3.