Research & Literature

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Avila M, Dyment DA, Sagen JV, et al.

Clinical genetics 2016; (89(4)):501-506 doi:10.1111/cge.12688.

PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

Winnay JN, Solheim MH, Dirice E, et al.

The Journal of clinical investigation 2016; (126(4)):1401-12.

Barraquer-Simons syndrome: a unique patient's perspective on diagnosis, disease progression and recontouring treatment.

Heidemann LN, Thomsen JB, Sørensen JA

BMJ case reports 2016; (2016()).

Insulin resistance and diabetes caused by genetic or diet-induced KBTBD2 deficiency in mice.

Zhang Z, Turer E, Li X, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(42)):E6418-E6426 doi:10.1073/pnas.1614467113.

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

Brown RJ, Araujo-Vilar D, Cheung PT, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4500-4511 doi:10.1210/jc.2016-2466.

Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.

Huang-Doran I, Tomlinson P, Payne F, et al.

JCI insight 2016; (1(17)):e88766.

Lipodystrophy Syndromes.

Hussain I, Garg A

Endocrinology and metabolism clinics of North America 2016; (45(4)):783-797 doi:10.1016/j.ecl.2016.06.012.

Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.

Gupta N, Asi N, Farah W, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(2)):363-374 doi:10.1210/jc.2016-2271.

SHORT syndrome in a two-year-old girl - case report.

Klatka M, Rysz I, Kozyra K, et al.

Italian journal of pediatrics 2017; (43(1)):44 doi:10.1186/s13052-017-0362-z.

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

Solheim MH, Clermont AC, Winnay JN, et al.

Investigative ophthalmology & visual science 2017; (58(7)):3100-3106 doi:10.1167/iovs.16-21347.

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.

Altay C, Seçil M, Demir T, et al.

Diagnostic and interventional radiology (Ankara, Turkey) 2017; (23(6)):428-434 doi:10.5152/dir.2017.17019.

Akt activation: A potential strategy to ameliorate insulin resistance.

Zhang Z, Liu H, Liu J

Diabetes research and clinical practice 2019; (156()):107092 doi:10.1016/j.diabres.2017.10.004.

Growth Hormone Deficiency in Children: From Suspecting to Diagnosing.

Vyas V, Kumar A, Jain V

Indian pediatrics 2017; (54(11)):955-960 doi:10.1007/s13312-017-1190-3.

Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor.

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

Journal of diabetes investigation 2018; (9(5)):1224-1227 doi:10.1111/jdi.12825.

IGF1 receptor signaling pathways.

Hakuno F, Takahashi SI

Journal of molecular endocrinology 2018; (61(1)):T69-T86.

Insulin/IGF-1 enhances intestinal epithelial crypt proliferation through PI3K/Akt, and not ERK signaling in obese humans.

Zhou W, Rowitz BM, Dailey MJ

Experimental biology and medicine (Maywood, N.J.) 2018; (243(11)):911-916 doi:10.1177/1535370218785152.

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Vatier C, Vantyghem MC, Storey C, et al.

Current medical research and opinion 2019; (35(3)):543-552 doi:10.1080/03007995.2018.1533459.

Hyaluronic acid fillers for correcting midface volume deficit in Barraquer-Simons syndrome.

Afra TP, Vinay K, Razmi T M, et al.

Journal of cosmetic dermatology 2019; (18(5)):1264-1266 doi:10.1111/jocd.12847.

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy.

Oral EA, Gorden P, Cochran E, et al.

Endocrine 2019; (64(3)):500-511 doi:10.1007/s12020-019-01862-8.

The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.

Craveiro Sarmento AS, Ferreira LC, Lima JG, et al.

Mutation research. Reviews in mutation research 2019; (781()):30-52 doi:10.1016/j.mrrev.2019.03.005.

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.

Metformin paradoxically worsens insulin resistance in SHORT syndrome.

Lewandowski KC, Dąbrowska K, Brzozowska M, et al.

Diabetology & metabolic syndrome 2019; (11()):81 doi:10.1186/s13098-019-0477-z.

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.

Lipodystrophic syndromes: From diagnosis to treatment.

Sollier C, Vatier C, Capel E, et al.

Annales d'endocrinologie 2020; (81(1)):51-60 doi:10.1016/j.ando.2019.10.003.

Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.

Kwok A, Zvetkova I, Virtue S, et al.

Molecular metabolism 2020; (40()):101020 doi:10.1016/j.molmet.2020.101020.

SHORT syndrome in two Chinese girls: A case report and review of the literature.

Zhang Y, Ji B, Li J, et al.

Molecular genetics & genomic medicine 2020; (8(9)):e1385 doi:10.1002/mgg3.1385.

Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.

Masunaga Y, Fujisawa Y, Muramatsu M, et al.

Endocrine journal 2021; (68(1)):111-117 doi:10.1507/endocrj.EJ20-0291.

FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.

Or L, Barkana Y, Hecht I, et al.

Experimental eye research 2020; (200()):108220 doi:10.1016/j.exer.2020.108220.

miR-100-3p inhibits the adipogenic differentiation of hMSCs by targeting PIK3R1 via the PI3K/AKT signaling pathway.

Wang T, Zhong D, Qin Z, et al.

Aging 2020; (12(24)):25090-25100 doi:10.18632/aging.104074.

Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.

Yin X, Liu J, Feng R, et al.

Journal of diabetes investigation 2021; (12(10)):1919-1922 doi:10.1111/jdi.13549.

SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.

Mubeen S, Gibson C, Mubeen R, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(7)):873-881 doi:10.1177/10556656211026859.

Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report.

Kim SH, Kim M, Yim J, et al.

Frontiers in pediatrics 2021; (9()):650920 doi:10.3389/fped.2021.650920.

Management of Short Stature: Use of Growth Hormone in GH-Deficient and non-GH-Deficient Conditions.

Vyas V, Menon RK

Indian journal of pediatrics 2021; (88(12)):1203-1208 doi:10.1007/s12098-021-03892-5.

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.

Serious diabetic ketoacidosis induced by insulin allergy and anti-insulin antibody in an individual with type 2 diabetes mellitus.

Takahashi K, Anno T, Takenouchi H, et al.

Journal of diabetes investigation 2022; (13(10)):1788-1792 doi:10.1111/jdi.13838.

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.

HM-Chromanone, a Major Homoisoflavonoid in Portulaca oleracea L., Improves Palmitate-Induced Insulin Resistance by Regulating Phosphorylation of IRS-1 Residues in L6 Skeletal Muscle Cells.

Park JE, Han JS

Nutrients 2022; (14(18)) doi:10.3390/nu14183815.

SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum.

Shvalb NF

Current diabetes reports 2022; (22(12)):571-577 doi:10.1007/s11892-022-01495-8.

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.

Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, et al.

Cells 2023; (12(5)) doi:10.3390/cells12050725.

The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity.

Tsay A, Wang JC

International journal of molecular sciences 2023; (24(16)) doi:10.3390/ijms241612665.

A rapid action plan to improve diagnosis and management of lipodystrophy syndromes.

Fourman LT, Lima JG, Simha V, et al.

Frontiers in endocrinology 2024; (15()):1383318 doi:10.3389/fendo.2024.1383318.

Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female.

Osman A, Morsi A, El-Refee S, Suliman S

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(12)):1096-1099 doi:10.1515/jpem-2024-0244.

KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.

Xun Y, Jiang Y, Khalid A, et al.

Cell death and differentiation 2025; (32(6)):1099-1111 doi:10.1038/s41418-024-01416-0.

The metabolically protective energy expenditure increase of Pik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis.

Luijten I, Onishi A, McKay EJ, et al.

American journal of physiology. Endocrinology and metabolism 2025; (328(6)):E743-E755 doi:10.1152/ajpendo.00449.2024.

Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.

Dyrka K, Łachut K, Kolesińska Z, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(8)):796-806 doi:10.1515/jpem-2025-0057.

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

Takayoshi T, Hirota Y, Sugano A, et al.

Journal of diabetes investigation 2025; (16(8)):1526-1534 doi:10.1111/jdi.70062.

Clinical Features, Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome).

Kaewkrasaesin C, Hwang M, Vasandani C, et al.

The Journal of clinical endocrinology and metabolism 2025; (111(1)):107-118 doi:10.1210/clinem/dgaf315.

Metreleptin In SHORT Syndrome With Uncontrolled Diabetes.

Korakas E, Kountouri A, Ikonomidis I, et al.

JCEM case reports 2025; (3(11)):luaf218 doi:10.1210/jcemcr/luaf218.

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome.

L'Amie AK, Hall RM, Bate J, et al.

JCEM case reports 2025; (3(11)):luaf243 doi:10.1210/jcemcr/luaf243.

Hyperosmolar Hyperglycemic State With Reversible Encephalopathy in a Young Female on Chronic Steroids and Opioids: A Case Report.

Myrou A

Cureus 2025; (17(12)):e99304 doi:10.7759/cureus.99304.

Diagnostic yield of genetic testing in children with short stature: a systematic review.

Scalco RC, Schoones JW, Galetaki D, et al.

European journal of endocrinology 2026; (194(2)):S15-S24 doi:10.1093/ejendo/lvag011.

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.

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Ismedon M, Smirnov V, Hamerstehl A, et al.

Ophthalmic genetics 2026; (47(5)):497-499 doi:10.1080/13816810.2026.2652012.

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.

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.

Semple RK, Wabitsch M, Akinci B, et al.

Journal of internal medicine 2026; doi:10.1111/joim.70157.