{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T15:49:04Z","timestamp":1783784944387,"version":"3.55.0"},"reference-count":87,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T00:00:00Z","timestamp":1763683200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T00:00:00Z","timestamp":1763683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diabetol Metab Syndr"],"DOI":"10.1186\/s13098-025-01990-4","type":"journal-article","created":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T15:25:32Z","timestamp":1763738732000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion"],"prefix":"10.1186","volume":"17","author":[{"given":"Josivan Gomes","family":"Lima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia Melissa","family":"Valerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lio","family":"F. Godoy-Matos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerson","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana R.","family":"Dantas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o Eduardo","family":"Nunes Salles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Gerchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renan","family":"Montenegro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,21]]},"reference":[{"issue":"12","key":"1990_CR1","doi-asserted-by":"publisher","first-page":"4500","DOI":"10.1210\/jc.2016-2466","volume":"101","author":"RJ Brown","year":"2016","unstructured":"Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, et al. The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline. J Clin Endocrinol Metab. 2016;101(12):4500\u201311.","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"1990_CR2","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1056\/NEJMra025261","volume":"350","author":"A Garg","year":"2004","unstructured":"Garg A. Acquired and inherited lipodystrophies. N Engl J Med. 2004;350(12):1220\u201334.","journal-title":"N Engl J Med"},{"key":"1990_CR3","first-page":"1072","volume":"26","author":"L Barraquer","year":"1907","unstructured":"Barraquer L. Histoire clinique d\u2019un Cas d\u2019atrophie du Tissu celluloadipeux. Neurolog Zentralblatt. 1907;26:1072.","journal-title":"Neurolog Zentralblatt"},{"issue":"2","key":"1990_CR4","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1210\/jcem-14-2-193","volume":"14","author":"W Berardinelli","year":"1954","unstructured":"Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab. 1954;14(2):193\u2013204.","journal-title":"J Clin Endocrinol Metab"},{"issue":"169","key":"1990_CR5","first-page":"33","volume":"43","author":"MG Dunnigan","year":"1974","unstructured":"Dunnigan MG, Cochrane MA, Kelly A, Scott JW. Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med. 1974;43(169):33\u201348.","journal-title":"Q J Med"},{"issue":"2","key":"1990_CR6","first-page":"111","volume":"29","author":"J Kobberling","year":"1975","unstructured":"Kobberling J, Willms B, Kattermann R, Creutzfeldt W. Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik. 1975;29(2):111\u201320.","journal-title":"Humangenetik"},{"issue":"6404","key":"1990_CR7","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/S0140-6736(46)91599-1","volume":"1","author":"RD Lawrence","year":"1946","unstructured":"Lawrence RD. Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. (concluded). Lancet. 1946;1(6404):773.","journal-title":"Lancet"},{"key":"1990_CR8","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1111\/j.1651-2227.1959.tb16421.x","volume":"48","author":"M Seip","year":"1959","unstructured":"Seip M. Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? Acta Paediatr. 1959;48:555\u201374.","journal-title":"Acta Paediatr"},{"key":"1990_CR9","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/BF02867054","volume":"5","author":"A Simons","year":"1911","unstructured":"Simons A. Lipodystrophia progressiva. Z Ges Neurol Psychiat. 1911;5:29\u201338.","journal-title":"Z Ges Neurol Psychiat"},{"key":"1990_CR10","unstructured":"Akinci B, Gular MC, Oral E. Lipodystrophy Syndromes: Presentation and Treatment. In: Endotext. edn. Edited by Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J South Dartmouth (MA); 2004."},{"issue":"2","key":"1990_CR11","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1080\/17446651.2020.1735360","volume":"15","author":"MC Foss-Freitas","year":"2020","unstructured":"Foss-Freitas MC, Akinci B, Luo Y, Stratton A, Oral EA. Diagnostic strategies and clinical management of lipodystrophy. Expert Rev Endocrinol Metab. 2020;15(2):95\u2013114.","journal-title":"Expert Rev Endocrinol Metab"},{"issue":"11","key":"1990_CR12","doi-asserted-by":"publisher","first-page":"3313","DOI":"10.1210\/jc.2011-1159","volume":"96","author":"A Garg","year":"2011","unstructured":"Garg A. Clinical review#: lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96(11):3313\u201325.","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"1990_CR13","doi-asserted-by":"publisher","first-page":"5120","DOI":"10.1210\/jc.2018-02730","volume":"104","author":"B Akinci","year":"2019","unstructured":"Akinci B, Oral EA, Neidert A, Rus D, Cheng WY, Thompson-Leduc P, Cheung HC, Bradt P, de Foss MC, Montenegro RM, et al. Comorbidities and survival in patients with lipodystrophy: an international chart review study. J Clin Endocrinol Metab. 2019;104(11):5120\u201335.","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"1990_CR14","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1210\/jc.2016-2271","volume":"102","author":"N Gupta","year":"2017","unstructured":"Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH. Clinical features and management of Non-HIV-Related lipodystrophy in children: A systematic review. J Clin Endocrinol Metab. 2017;102(2):363\u201374.","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"1990_CR15","doi-asserted-by":"publisher","first-page":"e0199052","DOI":"10.1371\/journal.pone.0199052","volume":"13","author":"JG Lima","year":"2018","unstructured":"Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, Lima DN, de Melo Campos JTA, Ferreira LC, Freire Neto FP, et al. Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. PLoS ONE. 2018;13(6):e0199052.","journal-title":"PLoS ONE"},{"issue":"7","key":"1990_CR16","doi-asserted-by":"publisher","first-page":"2759","DOI":"10.1210\/jc.2016-1005","volume":"101","author":"B Akinci","year":"2016","unstructured":"Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, et al. Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey. J Clin Endocrinol Metab. 2016;101(7):2759\u201367.","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"1990_CR17","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/s42255-019-0095-y","volume":"1","author":"JM Friedman","year":"2019","unstructured":"Friedman JM. Leptin and the endocrine control of energy balance. Nat Metab. 2019;1(8):754\u201364.","journal-title":"Nat Metab"},{"issue":"5","key":"1990_CR18","doi-asserted-by":"publisher","first-page":"2395","DOI":"10.1210\/jcem.87.5.8624","volume":"87","author":"WA Haque","year":"2002","unstructured":"Haque WA, Shimomura I, Matsuzawa Y, Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab. 2002;87(5):2395.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"1990_CR19","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s40618-018-0887-z","volume":"42","author":"D Araujo-Vilar","year":"2019","unstructured":"Araujo-Vilar D, Santini F. Diagnosis and treatment of lipodystrophy: a step-by-step approach. J Endocrinol Invest. 2019;42(1):61\u201373.","journal-title":"J Endocrinol Invest"},{"key":"1990_CR20","doi-asserted-by":"publisher","first-page":"1383318","DOI":"10.3389\/fendo.2024.1383318","volume":"15","author":"LT Fourman","year":"2024","unstructured":"Fourman LT, Lima JG, Simha V, Cappa M, Alyaarubi S, Montenegro R Jr., Akinci B, Santini F. A rapid action plan to improve diagnosis and management of lipodystrophy syndromes. Front Endocrinol (Lausanne). 2024;15:1383318.","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1990_CR21","doi-asserted-by":"publisher","first-page":"375","DOI":"10.2147\/DMSO.S130810","volume":"10","author":"E Chiquette","year":"2017","unstructured":"Chiquette E, Oral EA, Garg A, Araujo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes. 2017;10:375\u201383.","journal-title":"Diabetes Metab Syndr Obes"},{"issue":"7","key":"1990_CR22","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.2337\/dbi24-0018","volume":"73","author":"B Akinci","year":"2024","unstructured":"Akinci B, von Schnurbein J, Araujo-Vilar D, Wabitsch M, Oral EA. Lipodystrophy prevalence, lipodystrophy-like phenotypes, and diagnostic challenges. Diabetes. 2024;73(7):1039\u201342.","journal-title":"Diabetes"},{"key":"1990_CR23","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1186\/s13098-017-0280-7","volume":"9","author":"LB de Azevedo Medeiros","year":"2017","unstructured":"de Azevedo Medeiros LB, Candido Dantas VK, Craveiro Sarmento AS, Agnez-Lima LF, Meireles AL, Xavier Nobre TT, de Lima JG, de Melo Campos JTA. High prevalence of Berardinelli-Seip congenital lipodystrophy in Rio Grande do Norte State, Northeast Brazil. Diabetol Metab Syndr. 2017;9:80.","journal-title":"Diabetol Metab Syndr"},{"key":"1990_CR24","doi-asserted-by":"crossref","unstructured":"Lima JG, Nobrega LH, de Lima NN, do, Nascimento Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr 2016, 8:23.","DOI":"10.1186\/s13098-016-0140-x"},{"key":"1990_CR25","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.mrrev.2019.03.005","volume":"781","author":"AS Craveiro Sarmento","year":"2019","unstructured":"Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF. Galvao ururahy MA, de Melo Campos JTA: the worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy. Mutat Res Rev Mutat Res. 2019;781:30\u201352.","journal-title":"Mutat Res Rev Mutat Res"},{"issue":"Pt 6","key":"1990_CR26","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1111\/j.1469-1809.2007.00369.x","volume":"71","author":"KB Gomes","year":"2007","unstructured":"Gomes KB, Pardini VC, Ferreira AC, Fonseca CG, Fernandes AP. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. Ann Hum Genet. 2007;71(Pt 6):729\u201334.","journal-title":"Ann Hum Genet"},{"issue":"1","key":"1990_CR27","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/s13098-021-00680-1","volume":"13","author":"MP Madeira","year":"2021","unstructured":"Madeira MP, Freire EBL, Fernandes VO, Lima G, Melo IDP, Montenegro A, Freire J, Moreira-Nunes CFA, Montenegro RC, Colares JKB, et al. SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2021;13(1):65.","journal-title":"Diabetol Metab Syndr"},{"issue":"1","key":"1990_CR28","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1186\/s13098-022-00908-8","volume":"14","author":"RM Montenegro Junior","year":"2022","unstructured":"Montenegro Junior RM, Ponte CMM, Castelo M, de Oliveira Silveira AC, Fernandes VO, D\u2019Alva CB, Oliveira LFV, Hristov AD, Bandeira SP, da Cruz Paiva GE, et al. Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2022;14(1):136.","journal-title":"Diabetol Metab Syndr"},{"key":"1990_CR29","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1326700","volume":"15","author":"EBL Freire","year":"2024","unstructured":"Freire EBL, Brasil d\u2019Alva C, Madeira MP, Lima G, Fernandes VO, Aguiar LB, et al. Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2. Front Endocrinol (Lausanne). 2024;15:1326700.","journal-title":"Front Endocrinol (Lausanne)"},{"key":"1990_CR30","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1359211","volume":"15","author":"NR Guidorizzi","year":"2024","unstructured":"Guidorizzi NR, Valerio CM, Viola LF, Veras VR, Fernandes VO, Lima G, et al. Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study. Front Endocrinol (Lausanne). 2024;15:1359211.","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"1990_CR31","doi-asserted-by":"publisher","DOI":"10.1186\/s13098-024-01387-9","volume":"16","author":"MA da Silva","year":"2024","unstructured":"da Silva MA, Soares RMV, de Oliveira Filho AF, Campos LRS, de Lima JG, de Melo Campos JTA. Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil. Diabetol Metab Syndr. 2024;16(1):145.","journal-title":"Diabetol Metab Syndr"},{"key":"1990_CR32","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1250203","volume":"14","author":"A Fern\u00e1ndez-Pombo","year":"2023","unstructured":"Fern\u00e1ndez-Pombo A, S\u00e1nchez-Iglesias S, Castro-Pais AI, Ginzo-Villamayor MJ, Cobelo-G\u00f3mez S, Prado-Mora\u00f1a T, et al. Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain. Front Endocrinol. 2023. https:\/\/doi.org\/10.3389\/fendo.2023.1250203","journal-title":"Front Endocrinol"},{"key":"1990_CR33","doi-asserted-by":"crossref","unstructured":"Yildirim Simsir I, Tuysuz B, Ozbek MN, Tanrikulu S, Celik Guler M, Karhan AN, et al. Clinical features of generalized lipodystrophy in Turkey: a cohort analysis. Diabetes Obes Metab. 2023;25(7):1950\u201363.","DOI":"10.1111\/dom.15061"},{"issue":"1","key":"1990_CR34","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03173-2","volume":"19","author":"B Donadille","year":"2024","unstructured":"Donadille B, Janmaat S, Mosbah H, Belalem I, Lamothe S, Nedelcu M, et al. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet J Rare Dis. 2024;19(1):177.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"1990_CR35","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1210\/jc.2018-01922","volume":"104","author":"N Patni","year":"2019","unstructured":"Patni N, Li X, Adams-Huet B, Vasandani C, Gomez-Diaz RA, Garg A. Regional body fat changes and metabolic complications in children with Dunnigan lipodystrophy-causing LMNA variants. J Clin Endocrinol Metab. 2019;104(4):1099\u2013108.","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"1990_CR36","first-page":"1776","volume":"85","author":"A Garg","year":"2000","unstructured":"Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab. 2000;85(5):1776\u201382.","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"1990_CR37","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1097\/00005792-200303000-00007","volume":"82","author":"A Misra","year":"2003","unstructured":"Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore). 2003;82(2):129\u201346.","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"1990_CR38","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1097\/01.md.0000111061.69212.59","volume":"83","author":"A Misra","year":"2004","unstructured":"Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004;83(1):18\u201334.","journal-title":"Medicine (Baltimore)"},{"key":"1990_CR39","doi-asserted-by":"publisher","first-page":"458","DOI":"10.3389\/fendo.2018.00458","volume":"9","author":"RM Montenegro Jr","year":"2018","unstructured":"Montenegro RM Jr., Costa-Riquetto AD, Fernandes VO, Montenegro A, de Santana LS, Jorge AAL, Karbage L, Aguiar LB, Carvalho FHC, Teles MG, et al. Homozygous and heterozygous nuclear lamin A p.R582C mutation: different lipodystrophic phenotypes in the same kindred. Front Endocrinol (Lausanne). 2018;9:458.","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"1990_CR40","doi-asserted-by":"publisher","first-page":"107","DOI":"10.4158\/endp.19.1.v767575m65p5mr06","volume":"19","author":"Y Handelsman","year":"2013","unstructured":"Handelsman Y, Oral EA, Bloomgarden ZT, Brown RJ, Chan JL, Einhorn D, et al. The clinical approach to the detection of lipodystrophy - an AACE consensus statement. Endocr Pract. 2013;19(1):107\u201316.","journal-title":"Endocr Pract"},{"issue":"1","key":"1990_CR41","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1186\/s13098-024-01413-w","volume":"16","author":"VR Veras","year":"2024","unstructured":"Veras VR, da Cruz Paiva Lima GE, da Ponte Melo I, Fernandes VO, de Moura Lopes FK, do Amaral CL, Castelo MHG, Queiroz LL, Araujo JS, Valerio CM, et al. Anthropometric measurements as a key diagnostic tool for Familial partial lipodystrophy in women. Diabetol Metab Syndr. 2024;16(1):216.","journal-title":"Diabetol Metab Syndr"},{"issue":"1","key":"1990_CR42","doi-asserted-by":"publisher","DOI":"10.1186\/s13098-025-01733-5","volume":"17","author":"CM Valerio","year":"2025","unstructured":"Valerio CM, Viola LF, Guidorizzi NR, Lima JG, Godoy-Matos AF, Hohl A, et al. Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy. Diabetol Metab Syndr. 2025;17(1):186.","journal-title":"Diabetol Metab Syndr"},{"issue":"1","key":"1990_CR43","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/1758-5996-4-40","volume":"4","author":"CM Valerio","year":"2012","unstructured":"Valerio CM, Zajdenverg L, de Oliveira JE, Mory PB, Moyses RS, Godoy-Matos AF. Body composition study by dual-energy x-ray absorptiometry in Familial partial lipodystrophy: finding new tools for an objective evaluation. Diabetol Metab Syndr. 2012;4(1):40.","journal-title":"Diabetol Metab Syndr"},{"issue":"7","key":"1990_CR44","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.2337\/db23-0575","volume":"73","author":"S Agrawal","year":"2024","unstructured":"Agrawal S, Luan J, Cummings BB, Weiss EJ, Wareham NJ, Khera AV. Relationship of fat mass ratio, a biomarker for lipodystrophy, with cardiometabolic traits. Diabetes. 2024;73(7):1099\u2013111.","journal-title":"Diabetes"},{"issue":"2","key":"1990_CR45","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1038\/oby.2011.343","volume":"20","author":"AF Godoy-Matos","year":"2012","unstructured":"Godoy-Matos AF, Moreira RO, Valerio CM, Mory PB, Moises RS. A new method for body fat evaluation, body adiposity index, is useful in women with familial partial lipodystrophy. Obesity. 2012;20(2):440\u20133.","journal-title":"Obesity"},{"issue":"1","key":"1990_CR46","doi-asserted-by":"publisher","DOI":"10.1038\/s41387-024-00260-y","volume":"14","author":"WJ Loh","year":"2024","unstructured":"Loh WJ, Yaligar J, Hooper AJ, Sadananthan SA, Kway Y, Lim SC, et al. Clinical and imaging features of women with polygenic partial lipodystrophy: a case series. Nutr Diabetes. 2024;14(1):3.","journal-title":"Nutr Diabetes"},{"key":"1990_CR47","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2024.1359025","volume":"15","author":"CM Valerio","year":"2024","unstructured":"Valerio CM, Muniz RBG, Viola LF, Bartzen Pereira G, Moreira RO, de Sousa Berriel MR, et al. Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy. Front Endocrinol (Lausanne). 2024;15:1359025.","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"4","key":"1990_CR48","doi-asserted-by":"publisher","first-page":"e1739","DOI":"10.1210\/clinem\/dgab760","volume":"107","author":"R Meral","year":"2022","unstructured":"Meral R, Malandrino N, Walter M, Neidert AH, Muniyappa R, Oral EA, Brown RJ. Endogenous leptin concentrations poorly predict metreleptin response in patients with partial lipodystrophy. J Clin Endocrinol Metab. 2022;107(4):e1739\u201351.","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"1990_CR49","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1016\/j.ecl.2017.01.012","volume":"46","author":"M Lightbourne","year":"2017","unstructured":"Lightbourne M, Brown RJ. Genetics of lipodystrophy. Endocrinol Metab Clin North Am. 2017;46(2):539\u201354.","journal-title":"Endocrinol Metab Clin North Am"},{"key":"1990_CR50","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.jpeds.2018.11.030","volume":"207","author":"RM Montenegro Jr","year":"2019","unstructured":"Montenegro RM Jr., Fernandes VO, Penaforte Saboia JG, Montenegro A, Lima JG. Type 2 congenital generalized lipodystrophy: the diagnosis is in your hands. J Pediatr. 2019;207:257\u2013e257251.","journal-title":"J Pediatr"},{"issue":"1","key":"1990_CR51","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01364-1","volume":"15","author":"D Araujo-Vilar","year":"2020","unstructured":"Araujo-Vilar D, Fernandez-Pombo A, Rodriguez-Carnero G, Martinez-Olmos MA, Canton A, Villar-Taibo R, et al. LipoDDx: a mobile application for identification of rare lipodystrophy syndromes. Orphanet J Rare Dis. 2020;15(1):81.","journal-title":"Orphanet J Rare Dis"},{"key":"1990_CR52","doi-asserted-by":"crossref","unstructured":"da Cunha Olegario NB, da Cunha Neto JS, Barbosa PCS, Pinheiro PR, Landim PLA, Montenegro A, Fernandes VO, de Albuquerque VHC, Duarte JBF, da Cruz Paiva Lima GE et al. Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO. Sci Rep. 2023;13(1):2176.","DOI":"10.1038\/s41598-023-27987-5"},{"issue":"4","key":"1990_CR53","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1515\/JPEM.2002.15.4.441","volume":"15","author":"RM Montenegro Jr","year":"2002","unstructured":"Montenegro RM Jr., Montenegro AP, Fernandes MI, de Moraes RR, Elias J Jr., Gouveia LM, Muglia VF, Foss MC, Moreira AC, Martinelli CE Jr. Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy. J Pediatr Endocrinol Metab. 2002;15(4):441\u20137.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"1","key":"1990_CR54","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1186\/s13098-023-01121-x","volume":"15","author":"MC Bertoluci","year":"2023","unstructured":"Bertoluci MC, Silva Junior WS, Valente F, Araujo LR, Lyra R, de Castro JJ, Raposo JF, Miranda PAC, Boguszewski CL, Hohl A, et al. 2023 UPDATE: Luso-Brazilian evidence-based guideline for the management of antidiabetic therapy in type 2 diabetes. Diabetol Metab Syndr. 2023;15(1):160.","journal-title":"Diabetol Metab Syndr"},{"key":"1990_CR55","doi-asserted-by":"crossref","unstructured":"Bansal R,  Cochran E, Startzell M, Brown RJ. Clinical Effects of Sodium-Glucose Transporter Type 2 Inhibitors in Patients With Partial Lipodystrophy. Endocr Pract. 2022;28(6):610\u2013614.","DOI":"10.1016\/j.eprac.2022.03.006"},{"issue":"4","key":"1990_CR56","doi-asserted-by":"publisher","first-page":"1815","DOI":"10.1111\/dom.16175","volume":"27","author":"S Lamothe","year":"2025","unstructured":"Lamothe S, Belalem I, Vantyghem MC, Nobecourt E, Mosbah H, Beliard S, et al. Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: real-life experience from a national reference network. Diabetes Obes Metab. 2025;27(4):1815\u201325.","journal-title":"Diabetes Obes Metab"},{"issue":"4","key":"1990_CR57","doi-asserted-by":"publisher","first-page":"653","DOI":"10.2337\/dc23-1614","volume":"47","author":"MC Foss-Freitas","year":"2024","unstructured":"Foss-Freitas MC, Imam S, Neidert A, Gomes AD, Broome DT, Oral EA. Efficacy and safety of Glucagon-like peptide 1 agonists in a retrospective study of patients with familial partial lipodystrophy. Diabetes Care. 2024;47(4):653\u20139.","journal-title":"Diabetes Care"},{"issue":"5","key":"1990_CR58","first-page":"756","volume":"48","author":"R Meral","year":"2025","unstructured":"Meral R, Celik Guler M, Kaba D, Prativadi J, Frontera ED, Foss-Freitas MC, Nachawi N, Broome DT, Lightbourne M, Brown RJ, et al. Metabolic improvements with Tirzepatide in lipodystrophy: A novel option? Diabetes Care. 2025;48(5):756\u201362.","journal-title":"Diabetes Care"},{"issue":"7","key":"1990_CR59","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1056\/NEJMc2413871","volume":"392","author":"S Ten","year":"2025","unstructured":"Ten S, Bhangoo A, Buettner C. Tirzepatide for congenital generalized lipodystrophy. N Engl J Med. 2025;392(7):717\u20139.","journal-title":"N Engl J Med"},{"issue":"6","key":"1990_CR60","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63533","volume":"194","author":"G Akinci","year":"2024","unstructured":"Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, et al. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4. Am J Med Genet A. 2024;194(6):e63533.","journal-title":"Am J Med Genet A"},{"issue":"6","key":"1990_CR61","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1111\/cen.14426","volume":"94","author":"AJ Eldin","year":"2021","unstructured":"Eldin AJ, Akinci B, da Rocha AM, Meral R, Simsir IY, Adiyaman SC, et al. Cardiac phenotype in familial partial lipodystrophy. Clin Endocrinol (Oxf). 2021;94(6):1043\u201353.","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"6","key":"1990_CR62","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1111\/cen.14800","volume":"97","author":"BMXCRR Feijo","year":"2022","unstructured":"Feijo BMXCRR, Mendonca RM, Egito EST, Lima DN, Campos JTAM, Lima JG. Coronary arterial calcification in patients with congenital generalised lipodystrophy: a case series. Clin Endocrinol (Oxf). 2022;97(6):863\u20136.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"1990_CR63","unstructured":"Ag\u00eancia Nacional de Vigil\u00e2ncia Sanit\u00e1ria - ANVISA. Myalept (metreleptina) prescribing information. Last accessed in October 2025 from: https:\/\/www.gov.br\/anvisa\/pt-br\/assuntos\/medicamentos\/novos-medicamentos-e-indicacoes\/myalept-metreleptina-novo-registro"},{"issue":"5","key":"1990_CR64","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1210\/jc.2016-3628","volume":"102","author":"RJ Brown","year":"2017","unstructured":"Brown RJ, Meehan CA, Cochran E, Rother KI, Kleiner DE, Walter M, et al. Effects of metreleptin in pediatric patients with lipodystrophy. J Clin Endocrinol Metab. 2017;102(5):1511\u20139.","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"1990_CR65","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/s12020-018-1589-1","volume":"60","author":"RJ Brown","year":"2018","unstructured":"Brown RJ, Oral EA, Cochran E, Araujo-Vilar D, Savage DB, Long A, et al. Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. Endocrine. 2018;60(3):479\u201389.","journal-title":"Endocrine"},{"issue":"6","key":"1990_CR66","doi-asserted-by":"publisher","first-page":"922","DOI":"10.4158\/EP11229.OR","volume":"17","author":"JL Chan","year":"2011","unstructured":"Chan JL, Lutz K, Cochran E, Huang W, Peters Y, Weyer C, et al. Clinical effects of long-term metreleptin treatment in patients with lipodystrophy. Endocr Pract. 2011;17(6):922\u201332.","journal-title":"Endocr Pract"},{"issue":"3","key":"1990_CR67","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1007\/s12020-019-01862-8","volume":"64","author":"EA Oral","year":"2019","unstructured":"Oral EA, Gorden P, Cochran E, Araujo-Vilar D, Savage DB, Long A, et al. Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy. Endocrine. 2019;64(3):500\u201311.","journal-title":"Endocrine"},{"issue":"8","key":"1990_CR68","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1111\/dom.14726","volume":"24","author":"H Mosbah","year":"2022","unstructured":"Mosbah H, Vantyghem MC, Nobecourt E, Andreelli F, Archambeaud F, Bismuth E, et al. Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: real-life experience from a National reference network. Diabetes Obes Metab. 2022;24(8):1565\u201377.","journal-title":"Diabetes Obes Metab"},{"issue":"1","key":"1990_CR69","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/s12020-014-0450-4","volume":"49","author":"D Araujo-Vilar","year":"2015","unstructured":"Araujo-Vilar D, Sanchez-Iglesias S, Guillin-Amarelle C, Castro A, Lage M, Pazos M, et al. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. Endocrine. 2015;49(1):139\u201347.","journal-title":"Endocrine"},{"issue":"7","key":"1990_CR70","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.medj.2021.04.001","volume":"2","author":"B Akinci","year":"2021","unstructured":"Akinci B, Subauste A, Ajluni N, Esfandiari NH, Meral R, Neidert AH, Eraslan A, Hench R, Rus D, McKenna B, et al. Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings. Med. 2021;2(7):814\u201335.","journal-title":"Med"},{"issue":"4","key":"1990_CR71","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvab019","volume":"5","author":"K Cook","year":"2021","unstructured":"Cook K, Adamski K, Gomes A, Tuttle E, Kalden H, Cochran E, et al. Effects of metreleptin on patient outcomes and quality of life in generalized and partial lipodystrophy. J Endocr Soc. 2021;5(4):bvab019.","journal-title":"J Endocr Soc"},{"issue":"9","key":"1990_CR72","doi-asserted-by":"publisher","first-page":"4169","DOI":"10.1210\/jc.2019-00200","volume":"104","author":"HL Lee","year":"2019","unstructured":"Lee HL, Waldman MA, Auh S, Balow JE, Cochran EK, Gorden P, et al. Effects of metreleptin on proteinuria in patients with lipodystrophy. J Clin Endocrinol Metab. 2019;104(9):4169\u201377.","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"1990_CR73","doi-asserted-by":"publisher","first-page":"4258","DOI":"10.1210\/jc.2003-031868","volume":"89","author":"JR McDuffie","year":"2004","unstructured":"McDuffie JR, Riggs PA, Calis KA, Freedman RJ, Oral EA, DePaoli AM, et al. Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency. J Clin Endocrinol Metab. 2004;89(9):4258\u201363.","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"1990_CR74","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.metabol.2004.08.021","volume":"54","author":"C Musso","year":"2005","unstructured":"Musso C, Cochran E, Javor E, Young J, Depaoli AM, Gorden P. The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients. Metabolism. 2005;54(2):255\u201363.","journal-title":"Metabolism"},{"issue":"8","key":"1990_CR75","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1056\/NEJMoa012437","volume":"346","author":"EA Oral","year":"2002","unstructured":"Oral EA, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346(8):570\u20138.","journal-title":"N Engl J Med"},{"key":"1990_CR76","doi-asserted-by":"publisher","unstructured":"Brush M, Auh S, Cochran E, Tuska R, Koh C, Kleiner DE, et al. Effects of metreleptin in patients with generalized lipodystrophy before vs after the onset of severe metabolic disease. J Clin Endocrinol Metab. 2025;110(4):e1051\u2013e1061. https:\/\/doi.org\/10.1210\/clinem\/dgae335","DOI":"10.1210\/clinem\/dgae335"},{"key":"1990_CR77","unstructured":"MYALEPT\u2122 US prescribing information. Last accessed in October 2025 from: https:\/\/www.dailymed.nlm.nih.gov\/dailymed\/drugInfo.cfm?setid=c986f93b-855d-4ef0-b620-5d41a0513e48"},{"key":"1990_CR78","unstructured":"Myalepta EU Summary of product characteristics. Last accessed in October 2025 from: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/myalepta-epar-product-information_en.pdf"},{"key":"1990_CR79","unstructured":"Myalepta UK Summary of product characteristics. Last accessed in October 2025 from: https:\/\/www.medicines.org.uk\/emc\/product\/11184\/smpc"},{"issue":"6","key":"1990_CR80","doi-asserted-by":"publisher","first-page":"e0197784","DOI":"10.1371\/journal.pone.0197784","volume":"13","author":"VK Candido Dantas","year":"2018","unstructured":"Candido Dantas VK, Soares JDS, de Azevedo Medeiros LB, Craveiro Sarmento AS, Xavier Nobre TT, de Andrade FB. Gomes de Lima J, de Melo Campos JTA: nurses\u2019 knowledge about Berardinelli-Seip congenital lipodystrophy. PLoS ONE. 2018;13(6):e0197784.","journal-title":"PLoS ONE"},{"issue":"3","key":"1990_CR81","first-page":"185","volume":"34","author":"V Boulanger","year":"2020","unstructured":"Boulanger V, Schlemmer M, Rossov S, Seebald A, Gavin P. Establishing patient registries for rare diseases: rationale and challenges. Pharmaceut Med. 2020;34(3):185\u201390.","journal-title":"Pharmaceut Med"},{"key":"1990_CR82","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.924648","volume":"13","author":"CJ Jonker","year":"2022","unstructured":"Jonker CJ, Bakker E, Kurz X, Plueschke K. Contribution of patient registries to regulatory decision making on rare diseases medicinal products in Europe. Front Pharmacol. 2022;13:924648.","journal-title":"Front Pharmacol"},{"issue":"1","key":"1990_CR83","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/cpt.1414","volume":"106","author":"CA Olmo","year":"2019","unstructured":"Olmo CA, McGettigan P, Kurz X. Barriers and opportunities for use of patient registries in medicines regulation. Clin Pharmacol Ther. 2019;106(1):39\u201342.","journal-title":"Clin Pharmacol Ther"},{"issue":"1","key":"1990_CR84","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-1295-y","volume":"15","author":"J von Schnurbein","year":"2020","unstructured":"von Schnurbein J, Adams C, Akinci B, Ceccarini G, D\u2019Apice MR, Gambineri A, et al. European lipodystrophy registry: background and structure. Orphanet J Rare Dis. 2020;15(1):17.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"1990_CR85","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02714-5","volume":"18","author":"MW Haymond","year":"2023","unstructured":"Haymond MW, Araujo-Vilar D, Balser J, Lewis JH, Louzado R, Musso C, et al. The metreleptin effectiveness and safety registry (MEASuRE): concept, design and challenges. Orphanet J Rare Dis. 2023;18(1):127.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"1990_CR86","doi-asserted-by":"publisher","first-page":"71","DOI":"10.2337\/db21-1086","volume":"72","author":"F Corvillo","year":"2023","unstructured":"Corvillo F, Abel BS, Lopez-Lera A, Ceccarini G, Magno S, Santini F, et al. Characterization and clinical association of autoantibodies against perilipin 1 in patients with acquired generalized lipodystrophy. Diabetes. 2023;72(1):71\u201384.","journal-title":"Diabetes"},{"issue":"3","key":"1990_CR87","doi-asserted-by":"publisher","first-page":"e932","DOI":"10.1210\/clinem\/dgad700","volume":"109","author":"S Magno","year":"2024","unstructured":"Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, et al. Clinical characteristics of patients with acquired partial lipodystrophy: A multicenter retrospective study. J Clin Endocrinol Metab. 2024;109(3):e932\u201344.","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Diabetology &amp; Metabolic Syndrome"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13098-025-01990-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13098-025-01990-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13098-025-01990-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:02:44Z","timestamp":1763744564000},"score":1,"resource":{"primary":{"URL":"https:\/\/dmsjournal.biomedcentral.com\/articles\/10.1186\/s13098-025-01990-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,21]]},"references-count":87,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1990"],"URL":"https:\/\/doi.org\/10.1186\/s13098-025-01990-4","relation":{},"ISSN":["1758-5996"],"issn-type":[{"value":"1758-5996","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,21]]},"assertion":[{"value":"20 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Images of patients used in figures are used with the consent of the patients and\/or guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"JS, CMV, JRD, FG and RM have received speaker and consultancy fees from Amryt Pharmaceuticals. CMV is a principal investigator on a Chiesi clinical trial. GC has received a teaching grant and consultancy fees from Amryt Pharmaceuticals. FG has also received consultancy fees from PTC therapeutics, Merck and Novo Nordisk; educational support from Merck and Abbott; and travel grants from Novo Nordisk. All other authors declare no financial conflicts of interest associated with this work. The results presented in this review and commentary are solely based on a thorough analysis of the scientific literature. All authors except GC are members of the Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Brazil.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"438"}}