Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Nonalcoholic fatty liver disease and type 2 diabetes: common pathophysiologic mechanisms.

Saponaro C, Gaggini M, Gastaldelli A

Current diabetes reports 2015; (15(6)):607 doi:10.1007/s11892-015-0607-4.

Glycemic index, glycemic load and glycemic response: An International Scientific Consensus Summit from the International Carbohydrate Quality Consortium (ICQC).

Augustin LSA, Kendall CWC, Jenkins DJA, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2015; (25(9)):795-815 doi:10.1016/j.numecd.2015.05.005.

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.

The Diagnosis of Polycystic Ovary Syndrome in Adolescents.

Rosenfield RL

Pediatrics 2015; (136(6)):1154-65 doi:10.1542/peds.2015-1430.

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.

Type 2 diabetes mellitus.

DeFronzo RA, Ferrannini E, Groop L, et al.

Nature reviews. Disease primers 2015; (1()):15019 doi:10.1038/nrdp.2015.19.

Type B insulin resistance syndrome.

Willard DL, Stevenson M, Steenkamp D

Current opinion in endocrinology, diabetes, and obesity 2016; (23(4)):318-23 doi:10.1097/MED.0000000000000263.

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.

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.

Genetic syndromes of severe insulin resistance.

Melvin A, O'Rahilly S, Savage DB

Current opinion in genetics & development 2018; (50()):60-67 doi:10.1016/j.gde.2018.02.002.

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.

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.

Risperidone-induced type 2 diabetes presenting with diabetic ketoacidosis.

Hui Fang CE, Rafey MF, Cunningham A, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

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.

GnRH Agonist Improves Hyperandrogenism in an Adolescent Girl With an Insulin Receptor Gene Mutation.

Paprocki E, Barral RL, Vanden Brink H, et al.

Journal of the Endocrine Society 2019; (3(6)):1196-1200 doi:10.1210/js.2019-00045.

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R, Patil N, Sankar R, et al.

Epilepsia open 2019; (4(3)):397-408 doi:10.1002/epi4.12348.

Clinical, hormonal and metabolic parameters in women with PCOS with different combined oral contraceptives (containing chlormadinone acetate versus drospirenone).

Podfigurna A, Meczekalski B, Petraglia F, Luisi S

Journal of endocrinological investigation 2020; (43(4)):483-492 doi:10.1007/s40618-019-01133-3.

Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.

Takeuchi T, Ishigaki Y, Hirota Y, et al.

Journal of diabetes investigation 2020; (11(3)):603-616 doi:10.1111/jdi.13171.

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.

Structure and function of the insulin receptor-a personal perspective.

Kasuga M

Proceedings of the Japan Academy. Series B, Physical and biological sciences 2019; (95(10)):581-589 doi:10.2183/pjab.95.039.

Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report.

Ding Q, Liang M

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2020; (36(6)):558-560 doi:10.1080/09513590.2019.1707794.

Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report

Hacıhamdioğlu B, Baş EG, Delil K

Journal of clinical research in pediatric endocrinology 2020; (13(1)):100-103 doi:10.4274/jcrpe.galenos.2020.2019.0213.

Long-term efficacy of the sodium-glucose cotransporter 2 inhibitor, ipragliflozin, in a case of type A insulin resistance syndrome.

Nagashima S, Wakabayashi T, Saito N, et al.

Journal of diabetes investigation 2020; (11(5)):1363-1365 doi:10.1111/jdi.13241.

Type B insulin resistance syndrome: a systematic review.

Martins LM, Fernandes VO, Carvalho MMD, et al.

Archives of endocrinology and metabolism 2020; (64(4)):337-348 doi:10.20945/2359-3997000000257.

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.

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.

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance.

Sanderson EE, Shah M, Hooper AJ, et al.

Endocrinology, diabetes & metabolism case reports 2022; (2022()).

Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.

Dapas M, Dunaif A

Endocrine reviews 2022; (43(6)):927-965 doi:10.1210/endrev/bnac001.

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.

Treatment and five-year follow-up of type A insulin resistance syndrome: A case report.

Chen YH, Chen QQ, Wang CL

World journal of clinical cases 2022; (10(8)):2522-2528 doi:10.12998/wjcc.v10.i8.2522.

Combination Therapy With Semaglutide and Dapagliflozin as an Effective Approach for the Management of Type A Insulin Resistance Syndrome: A Case Report.

Martínez-Montoro JI, Pinzón-Martín JL, Damas-Fuentes M, et al.

Frontiers in endocrinology 2022; (13()):838887 doi:10.3389/fendo.2022.838887.

[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.

A Qualitative Research Study of Experiences and Perceptions of People Living with Insulin Resistance Syndrome or Lipoatrophic Diabetes in Japan.

Yagi N, Toda A, Mitani K, et al.

Diabetes therapy : research, treatment and education of diabetes and related disorders 2023; (14(8)):1345-1356 doi:10.1007/s13300-023-01412-6.

A Multicenter, Open-Label, Single-Arm Trial of the Efficacy and Safety of Empagliflozin Treatment for Refractory Diabetes Mellitus with Insulin Resistance (EMPIRE-01).

Hirota Y, Kakei Y, Imai J, et al.

Diabetes therapy : research, treatment and education of diabetes and related disorders 2024; (15(2)):533-545 doi:10.1007/s13300-023-01526-x.

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.

Koca SB, Kulali MA, Göğüş B, Demirbilek H

Archives of endocrinology and metabolism 2024; (68()):e210305.

Olanzapine-Induced Diabetic Ketoacidosis: A Reversible Etiology Overlooked in Psychiatric Patients.

Jain AK, Shah A, Bhat G

AACE clinical case reports 2024; (10(1)):14-16 doi:10.1016/j.aace.2023.10.006.

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 multicenter, open-label, single-arm trial of the long-term safety of empagliflozin treatment for refractory diabetes mellitus with insulin resistance (EMPIRE-02).

Hirota Y, Kakei Y, Imai J, et al.

Journal of diabetes investigation 2024; (15(9)):1211-1219 doi:10.1111/jdi.14226.

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.

Utility of the C-Peptide/Insulin Molar Ratio for Distinguishing Type A Insulin Resistance Syndrome From Type 2 Diabetes.

Nishikage S, Hirota Y, Takayoshi T, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(10)):e3383-e3390 doi:10.1210/clinem/dgaf043.

Euglycemic Diabetic Ketoacidosis in a Pregnant Patient on Insulin Pump Therapy.

Yasin H, Ross JD, Turner J, Dagogo-Jack S

AACE clinical case reports 2025; (11(1)):49-52 doi:10.1016/j.aace.2024.10.004.

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)).

Management of pregnancy with metformin: Case reports for genetic insulin resistance syndrome and a literature review for gestational and type 2 diabetes.

Yoshimura K, Hirota Y, Hamaguchi T, et al.

Journal of diabetes investigation 2025; (16(9)):1663-1669 doi:10.1111/jdi.70105.

Beyond PCOS: An Unusual Presentation of Type A Insulin Resistance Syndrome.

Cehic M, Milenkovic T, Todorovic S, et al.

Journal of pediatric and adolescent gynecology 2026; (39(1)):131-134 doi:10.1016/j.jpag.2025.09.013.

Postprandial Hypoglycemia Associated With Insulin Receptor Gene Variant G1146R.

Delacruz L, Adamczak LJ, Astapova O

JCEM case reports 2025; (3(12)):luaf247 doi:10.1210/jcemcr/luaf247.

Severe burns complicated by EDKA, CDI, and NTIS: A case report and literature review.

Yan T, Hu D, Wang N, et al.

Medicine 2026; (105(3)):e47272 doi:10.1097/MD.0000000000047272.

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.

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.

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.

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.

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

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

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