{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:57:05Z","timestamp":1790816225841,"version":"4.1.0"},"reference-count":129,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Lipodystrophy syndromes are rare and heterogeneous disorders characterized by partial or generalized absence of subcutaneous adipose tissue. These conditions are associated with severe metabolic complications, including insulin resistance, diabetes, dyslipidemia, and hepatic steatosis. Because of their rarity and clinical variability, lipodystrophies are often under-recognized and may be mistaken for more common endocrine disorders, leading to misdiagnosis and delayed treatment. Several endocrine diseases share overlapping clinical manifestations with lipodystrophy, such as abnormal fat distribution, hyperandrogenism, growth disturbances, or metabolic dysfunction. Such overlap poses significant diagnostic challenges, especially for nonspecialist clinicians. A precise differential diagnosis is crucial as management strategies differ substantially between lipodystrophies and other endocrine conditions. This review explores the main diagnostic pitfalls encountered when assessing patients with suspected lipodystrophy and offers practical guidance on the clinical, biochemical, and imaging features useful for distinguishing these conditions from other endocrinological disorders. Recognizing lipodystrophy early is crucial to prevent severe complications and initiate targeted treatments, including lifestyle interventions, insulin-sensitizing drugs, lipid-lowering therapies, and, when appropriate, recombinant leptin (metreleptin) therapy. By outlining key clinical clues and common areas of overlap, this review aims to help clinicians avoid misdiagnoses and ensure timely, accurate identification of lipodystrophy syndromes.<\/jats:p>","DOI":"10.1093\/ejendo\/lvag067","type":"journal-article","created":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T11:24:46Z","timestamp":1776684286000},"page":"R1-R16","source":"Crossref","is-referenced-by-count":2,"title":["Lipodystrophy look-alikes: navigating diagnostic overlap with endocrine diseases"],"prefix":"10.1093","volume":"194","author":[{"given":"Giovanni","family":"Ceccarini","sequence":"first","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9609-6286","authenticated-orcid":false,"given":"Donatella","family":"Gilio","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8705-6554","authenticated-orcid":false,"given":"Silvia","family":"Magno","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lavinia","family":"Palladino","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferruccio","family":"Santini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56100 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"issue":"12","key":"2026043015232452300_lvag067-B1","doi-asserted-by":"publisher","first-page":"4500","DOI":"10.1210\/jc.2016-2466","article-title":"The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline","volume":"101","author":"Brown","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026043015232452300_lvag067-B2","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.ando.2024.05.015","article-title":"Partial lipodystrophy: clinical presentation and treatment","volume":"85","author":"Mosbah","year":"2024","journal-title":"Ann Endocrinol (Paris)"},{"issue":"1","key":"2026043015232452300_lvag067-B3","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/s11892-025-01603-4","article-title":"Clinical guidance for lipodystrophy syndromes: from diagnosis and work-up to treatment","volume":"25","author":"Gilio","year":"2025","journal-title":"Curr Diab Rep"},{"issue":"1","key":"2026043015232452300_lvag067-B4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s40618-018-0887-z","article-title":"Diagnosis and treatment of lipodystrophy: a step-by-step approach","volume":"42","author":"Ara\u00fajo-Vilar","year":"2019","journal-title":"J Endocrinol Invest"},{"key":"2026043015232452300_lvag067-B5","doi-asserted-by":"publisher","first-page":"1383318","DOI":"10.3389\/fendo.2024.1383318","article-title":"A rapid action plan to improve diagnosis and management of lipodystrophy syndromes","volume":"15","author":"Fourman","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2026043015232452300_lvag067-B6","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.ando.2019.10.003","article-title":"Lipodystrophic syndromes: from diagnosis to treatment","volume":"81","author":"Sollier","year":"2020","journal-title":"Ann Endocrinol (Paris)"},{"issue":"3","key":"2026043015232452300_lvag067-B7","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.ando.2012.04.010","article-title":"How to diagnose a lipodystrophy syndrome","volume":"73","author":"Vantyghem","year":"2012","journal-title":"Ann Endocrinol (Paris)"},{"issue":"1","key":"2026043015232452300_lvag067-B8","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1080\/19491034.2018.1454167","article-title":"Lipodystrophic laminopathies: diagnostic clues","volume":"9","author":"Guill\u00edn-Amarelle","year":"2018","journal-title":"Nucleus"},{"issue":"1","key":"2026043015232452300_lvag067-B9","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1186\/s13023-020-01364-1","article-title":"LipoDDx: a mobile application for identification of rare lipodystrophy syndromes","volume":"15","author":"Ara\u00fajo-Vilar","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2026043015232452300_lvag067-B10","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1007\/s11892-025-01602-5","article-title":"Lipodystrophy syndromes: one name but many diseases highlighting the importance of adipose tissue in metabolism","volume":"25","author":"Foss-Freitas","year":"2025","journal-title":"Curr Diab Rep"},{"issue":"24","key":"2026043015232452300_lvag067-B11","doi-asserted-by":"publisher","first-page":"2558","DOI":"10.1056\/NEJMra062453","article-title":"Medical progress: acromegaly","volume":"355","author":"Melmed","year":"2006","journal-title":"N Engl J Med"},{"issue":"1","key":"2026043015232452300_lvag067-B12","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/1750-1172-3-17","article-title":"Acromegaly","volume":"3","author":"Chanson","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"2026043015232452300_lvag067-B13","doi-asserted-by":"publisher","first-page":"39","DOI":"10.3389\/fendo.2020.00039","article-title":"Congenital generalized lipoatrophy (berardinelli-seip syndrome) type 1: description of novel AGPAT2 homozygous variants showing the highly heterogeneous presentation of the disease","volume":"11","author":"Ceccarini","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"4","key":"2026043015232452300_lvag067-B14","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.clindermatol.2006.04.011","article-title":"Skin manifestations in acromegaly","volume":"24","author":"Ben-Shlomo","year":"2006","journal-title":"Clin Dermatol"},{"issue":"10","key":"2026043015232452300_lvag067-B15","doi-asserted-by":"publisher","first-page":"1820","DOI":"10.1001\/archinte.1982.00340230060013","article-title":"Histochemical characterization of the cutaneous involvement of acromegaly","volume":"142","author":"Matsuoka","year":"1982","journal-title":"Arch Intern Med"},{"issue":"9","key":"2026043015232452300_lvag067-B16","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1007\/s11892-022-01485-w","article-title":"Lipodystrophy for the diabetologist-what to look for","volume":"22","author":"Patni","year":"2022","journal-title":"Curr Diab Rep"},{"issue":"s413","key":"2026043015232452300_lvag067-B17","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1111\/j.1651-2227.1996.tb14262.x","article-title":"Generalized lipodystrophy, congenital and acquired (lipoatrophy)","volume":"413","author":"Seip","year":"1996","journal-title":"Acta Paediatr Suppl"},{"issue":"10","key":"2026043015232452300_lvag067-B18","doi-asserted-by":"publisher","first-page":"4840","DOI":"10.1210\/jc.2003-030855","article-title":"Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy","volume":"88","author":"Agarwal","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2026043015232452300_lvag067-B19","first-page":"21","article-title":"Clinical features of acromegaly and response to cryohypophysectomy","volume":"70","author":"Hofeldt","year":"1973","journal-title":"Rocky Mt Med J"},{"issue":"2","key":"2026043015232452300_lvag067-B20","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1210\/jcem.75.2.1639935","article-title":"Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy","volume":"75","author":"Garg","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2026043015232452300_lvag067-B21","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1210\/jcem.78.2.8106626","article-title":"Body composition and energy expenditure in acromegaly","volume":"78","author":"O'Sullivan","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2026043015232452300_lvag067-B22","doi-asserted-by":"publisher","first-page":"2334","DOI":"10.1210\/jc.2007-2780","article-title":"Lower visceral and subcutaneous but higher intermuscular adipose tissue depots in patients with growth hormone and insulin-like growth factor I excess due to acromegaly","volume":"93","author":"Freda","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"2026043015232452300_lvag067-B23","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.metabol.2019.05.001","article-title":"Fatty liver in lipodystrophy: a review with a focus on therapeutic perspectives of adiponectin and\/or leptin replacement","volume":"96","author":"Polyzos","year":"2019","journal-title":"Metabolism"},{"issue":"1","key":"2026043015232452300_lvag067-B24","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1097\/tp.0000000000002480","article-title":"Nonalcoholic fatty liver disease: basic pathogenetic mechanisms in the progression from NAFLD to NASH","volume":"103","author":"Pierantonelli","year":"2019","journal-title":"Transplantation"},{"issue":"9","key":"2026043015232452300_lvag067-B25","doi-asserted-by":"publisher","first-page":"1379","DOI":"10.1172\/jci105446","article-title":"Volumetric, hemodynamic, and excretory characteristics of the liver in acromegaly","volume":"45","author":"Preisig","year":"1966","journal-title":"J Clin Invest"},{"issue":"1","key":"2026043015232452300_lvag067-B26","doi-asserted-by":"publisher","first-page":"e119","DOI":"10.1210\/clinem\/dgad490","article-title":"Nonalcoholic fatty liver disease, liver fibrosis, and utility of noninvasive scores in patients with acromegaly","volume":"109","author":"Ero\u011flu","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2026043015232452300_lvag067-B27","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1056\/nejm199602013340503","article-title":"Serum immunoreactive-leptin concentrations in normal-weight and obese humans","volume":"334","author":"Considine","year":"1996","journal-title":"N Engl J Med"},{"issue":"8","key":"2026043015232452300_lvag067-B28","doi-asserted-by":"publisher","first-page":"1881","DOI":"10.1007\/s40618-024-02308-3","article-title":"Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa","volume":"47","author":"Ceccarini","year":"2024","journal-title":"J Endocrinol Invest"},{"issue":"6","key":"2026043015232452300_lvag067-B29","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1046\/j.1365-2265.2003.01789.x","article-title":"Perturbations in adiponectin, leptin and resistin levels in acromegaly: lack of correlation with insulin resistance","volume":"58","author":"Silha","year":"2003","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"5","key":"2026043015232452300_lvag067-B30","doi-asserted-by":"publisher","first-page":"2395","DOI":"10.1210\/jcem.87.5.8624","article-title":"Serum adiponectin and leptin levels in patients with lipodystrophies","volume":"87","author":"Haque","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2026043015232452300_lvag067-B31","doi-asserted-by":"publisher","first-page":"4258","DOI":"10.1210\/jc.2003-031868","article-title":"Effects of exogenous leptin on satiety and satiation in patients with lipodystrophy and leptin insufficiency","volume":"89","author":"McDuffie","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2026043015232452300_lvag067-B32","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/nrendo.2015.123","article-title":"Congenital generalized lipodystrophies\u2013new insights into metabolic dysfunction","volume":"11","author":"Patni","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"2026043015232452300_lvag067-B33","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.1210\/jc.2009-1824","article-title":"Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency","volume":"95","author":"Antuna-Puente","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B34","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s11102-023-01360-1","article-title":"Consensus on criteria for acromegaly diagnosis and remission","volume":"27","author":"Giustina","year":"2024","journal-title":"Pituitary"},{"issue":"2","key":"2026043015232452300_lvag067-B35","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1111\/j.1365-2265.1973.tb00411.x","article-title":"Partial and total lipodystrophy: changes in circulating sugar, free fatty acids, insulin and growth hormone following the administration of glucose and of insulin","volume":"2","author":"Boucher","year":"1973","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"1","key":"2026043015232452300_lvag067-B36","doi-asserted-by":"publisher","first-page":"e96","DOI":"10.1210\/clinem\/dgad491","article-title":"Insulin signaling through the insulin receptor increases linear growth through effects on bone and the GH-IGF-1 axis","volume":"109","author":"Okawa","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2026043015232452300_lvag067-B37","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1136\/jmg.39.10.722","article-title":"Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy","volume":"39","author":"Van Maldergem","year":"2002","journal-title":"J Med Genet"},{"issue":"8","key":"2026043015232452300_lvag067-B38","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1056\/NEJMoa012437","article-title":"Leptin-replacement therapy for lipodystrophy","volume":"346","author":"Oral","year":"2002","journal-title":"N Engl J Med"},{"issue":"5","key":"2026043015232452300_lvag067-B39","doi-asserted-by":"publisher","first-page":"1802","DOI":"10.1210\/jc.2014-4491","article-title":"Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin","volume":"100","author":"Diker-Cohen","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B40","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1210\/er.2002-0022","article-title":"Systemic complications of acromegaly: epidemiology, pathogenesis, and management","volume":"25","author":"Colao","year":"2004","journal-title":"Endocr Rev"},{"issue":"3","key":"2026043015232452300_lvag067-B41","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1007\/s11102-012-0420-x","article-title":"A consensus on the diagnosis and treatment of acromegaly complications","volume":"16","author":"Melmed","year":"2013","journal-title":"Pituitary"},{"issue":"1","key":"2026043015232452300_lvag067-B42","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s11102-013-0471-7","article-title":"Prevalence and risk factors of impaired glucose tolerance and diabetes mellitus at diagnosis of acromegaly: a study in 148 patients","volume":"17","author":"Alexopoulou","year":"2014","journal-title":"Pituitary"},{"issue":"5","key":"2026043015232452300_lvag067-B43","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1046\/j.1365-2265.2000.00986.x","article-title":"Impaired beta-cell function in the presence of reduced insulin sensitivity determines glucose tolerance status in acromegalic patients","volume":"52","author":"Kasayama","year":"2000","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"2026043015232452300_lvag067-B44","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1023\/a:1023321421760","article-title":"Roles of insulin-like growth factor-I and growth hormone in mediating insulin resistance in acromegaly","volume":"5","author":"Clemmons","year":"2002","journal-title":"Pituitary"},{"issue":"7","key":"2026043015232452300_lvag067-B45","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1016\/j.tem.2016.04.014","article-title":"Current and emerging aspects of diabetes Mellitus in acromegaly","volume":"27","author":"Frara","year":"2016","journal-title":"Trends Endocrinol Metab"},{"issue":"4","key":"2026043015232452300_lvag067-B46","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1007\/s11102-011-0365-5","article-title":"Clinical and metabolic effects of first-line treatment with somatostatin analogues or surgery in acromegaly: a retrospective and comparative study","volume":"15","author":"Giordano","year":"2012","journal-title":"Pituitary"},{"issue":"3","key":"2026043015232452300_lvag067-B47","doi-asserted-by":"publisher","first-page":"104085","DOI":"10.1016\/j.lpm.2021.104085","article-title":"Complications of lipodystrophy syndromes","volume":"50","author":"Akinci","year":"2021","journal-title":"Presse Med"},{"issue":"6","key":"2026043015232452300_lvag067-B48","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1055\/s-0029-1211774","article-title":"Anomalies of lipoprotein pattern and fibrinolysis in acromegalic patients: relation to growth hormone levels and insulin-like growth factor I","volume":"105","author":"Wildbrett","year":"1997","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"1","key":"2026043015232452300_lvag067-B49","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1046\/j.1365-2265.2001.01326.x","article-title":"The atherogenic plasma remnant-like particle cholesterol concentration is increased in the fasting and postprandial state in active acromegalic patients","volume":"55","author":"Twickler","year":"2001","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"9","key":"2026043015232452300_lvag067-B50","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1007\/s11883-014-0437-x","article-title":"Congenital lipodystrophies and dyslipidemias","volume":"16","author":"Prieur","year":"2014","journal-title":"Curr Atheroscler Rep"},{"issue":"10","key":"2026043015232452300_lvag067-B51","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1111\/j.1467-789X.2011.00900.x","article-title":"Adipose tissue dysfunction and hypertriglyceridemia: mechanisms and management","volume":"12","author":"van de Woestijne","year":"2011","journal-title":"Obes Rev"},{"issue":"7","key":"2026043015232452300_lvag067-B52","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1016\/0026-0495(80)90112-2","article-title":"Decline of postheparin plasma lipoprotein lipase in acromegalic patients","volume":"29","author":"Murase","year":"1980","journal-title":"Metabolism"},{"issue":"3","key":"2026043015232452300_lvag067-B53","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1530\/acta.0.1000358","article-title":"The incidence and pathogenesis of hyperlipidaemia in 16 consecutive acromegalic patients","volume":"100","author":"Takeda","year":"1982","journal-title":"Acta Endocrinol (Copenh)"},{"issue":"4","key":"2026043015232452300_lvag067-B54","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/j.1365-2265.2012.04414.x","article-title":"GH levels and insulin sensitivity are differently associated with biomarkers of cardiovascular disease in active acromegaly","volume":"77","author":"Boero","year":"2012","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"2","key":"2026043015232452300_lvag067-B55","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/s0021-9150(00)00433-0","article-title":"Low plasma lecithin:cholesterol acyltransferase and lipid transfer protein activities in growth hormone deficient and acromegalic men: role in altered high density lipoproteins","volume":"153","author":"Beentjes","year":"2000","journal-title":"Atherosclerosis"},{"issue":"9","key":"2026043015232452300_lvag067-B56","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1194\/jlr.R024075","article-title":"Cholesteryl ester transfer protein inhibition as a strategy to reduce cardiovascular risk","volume":"53","author":"Barter","year":"2012","journal-title":"J Lipid Res"},{"issue":"11","key":"2026043015232452300_lvag067-B57","doi-asserted-by":"publisher","first-page":"3313","DOI":"10.1210\/jc.2011-1159","article-title":"Clinical review#: lipodystrophies: genetic and acquired body fat disorders","volume":"96","author":"Garg","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"11-12","key":"2026043015232452300_lvag067-B58","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1515\/jpem-2012-0240","article-title":"An unusual cause of delayed puberty: Berardinelli- Seip syndrome","volume":"25","author":"Upreti","year":"2012","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"2","key":"2026043015232452300_lvag067-B59","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/j.metabol.2004.08.021","article-title":"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","volume":"54","author":"Musso","year":"2005","journal-title":"Metabolism"},{"issue":"2","key":"2026043015232452300_lvag067-B60","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1210\/jc.2011-1896","article-title":"Insulin resistance is a sufficient basis for hyperandrogenism in lipodystrophic women with polycystic ovarian syndrome","volume":"97","author":"Lungu","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"3-4","key":"2026043015232452300_lvag067-B61","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1159\/000439432","article-title":"Effects of recombinant human leptin (metreleptin) on nocturnal luteinizing hormone secretion in lipodystrophy patients","volume":"103","author":"Abel","year":"2016","journal-title":"Neuroendocrinology"},{"issue":"4","key":"2026043015232452300_lvag067-B62","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1111\/cen.15182","article-title":"Polycystic ovary syndrome in the context of pituitary adenomas: prevalence, pathophysiology and clinical management","volume":"102","author":"Cela","year":"2025","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2026043015232452300_lvag067-B63","doi-asserted-by":"publisher","first-page":"1326700","DOI":"10.3389\/fendo.2024.1326700","article-title":"Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2","volume":"15","author":"Freire","year":"2024","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"11","key":"2026043015232452300_lvag067-B64","doi-asserted-by":"publisher","first-page":"1495","DOI":"10.1007\/s00256-016-2457-9","article-title":"Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases","volume":"45","author":"Teboul-Cor\u00e9","year":"2016","journal-title":"Skeletal Radiol"},{"issue":"s413","key":"2026043015232452300_lvag067-B65","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/j.1651-2227.1996.tb14265.x","article-title":"Radiological features in generalized lipodystrophy","volume":"413","author":"Westvik","year":"1996","journal-title":"Acta Paediatr Suppl"},{"issue":"10","key":"2026043015232452300_lvag067-B66","doi-asserted-by":"publisher","first-page":"3077","DOI":"10.1210\/jcem.80.10.7559900","article-title":"Postmortem findings in congenital generalized lipodystrophy","volume":"80","author":"Chandalia","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"issue":"7715","key":"2026043015232452300_lvag067-B67","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/s0140-6736(71)92085-x","article-title":"Bone lesions in congenital generalised lipodystrophy","volume":"2","author":"G\u00fcell-Gonz\u00e1lez","year":"1971","journal-title":"Lancet"},{"issue":"6","key":"2026043015232452300_lvag067-B68","doi-asserted-by":"publisher","first-page":"655","DOI":"10.3803\/EnM.2023.601","article-title":"Acromegaly and bone: an update","volume":"38","author":"Giustina","year":"2023","journal-title":"Endocrinol Metab (Seoul)"},{"issue":"4","key":"2026043015232452300_lvag067-B69","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1016\/j.tem.2020.01.011","article-title":"Acromegaly and vertebral fractures: facts and questions","volume":"31","author":"Giustina","year":"2020","journal-title":"Trends Endocrinol Metab"},{"issue":"6","key":"2026043015232452300_lvag067-B70","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1194\/jlr.R023754","article-title":"Seipin: from human disease to molecular mechanism","volume":"53","author":"Cartwright","year":"2012","journal-title":"J Lipid Res"},{"issue":"3","key":"2026043015232452300_lvag067-B71","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000874","article-title":"Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations","volume":"6","author":"Rajab","year":"2010","journal-title":"PLoS Genet"},{"issue":"1","key":"2026043015232452300_lvag067-B72","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/ng.3714","article-title":"Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance","volume":"49","author":"Lotta","year":"2017","journal-title":"Nat Genet"},{"key":"2026043015232452300_lvag067-B73","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.23813","article-title":"Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression","volume":"6","author":"Rocha","year":"2017","journal-title":"Elife"},{"issue":"3","key":"2026043015232452300_lvag067-B74","doi-asserted-by":"publisher","first-page":"427","DOI":"10.2337\/db24-0624","article-title":"Gain of function NOTCH3 variants cause familial partial lipodystrophy due to activation of senescence pathways","volume":"74","author":"Garg","year":"2025","journal-title":"Diabetes"},{"issue":"1","key":"2026043015232452300_lvag067-B75","doi-asserted-by":"publisher","DOI":"10.1172\/jci198888","article-title":"A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia","volume":"136","author":"Simha","year":"2025","journal-title":"J Clin Invest"},{"issue":"11","key":"2026043015232452300_lvag067-B76","doi-asserted-by":"publisher","first-page":"1929","DOI":"10.1038\/s41588-023-01535-3","article-title":"Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPAR\u03b3 signaling","volume":"55","author":"Schuermans","year":"2023","journal-title":"Nat Genet"},{"issue":"24","key":"2026043015232452300_lvag067-B77","doi-asserted-by":"publisher","first-page":"8901","DOI":"10.1073\/pnas.1408523111","article-title":"Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease","volume":"111","author":"Payne","year":"2014","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"2026043015232452300_lvag067-B78","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1038\/s41572-024-00588-w","article-title":"Cushing syndrome","volume":"11","author":"Nieman","year":"2025","journal-title":"Nat Rev Dis Primers"},{"issue":"2","key":"2026043015232452300_lvag067-B79","doi-asserted-by":"publisher","first-page":"101380","DOI":"10.1016\/j.beem.2020.101380","article-title":"Cushing's syndrome: overview of clinical presentation, diagnostic tools and complications","volume":"34","author":"Barbot","year":"2020","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"3","key":"2026043015232452300_lvag067-B80","doi-asserted-by":"publisher","first-page":"104071","DOI":"10.1016\/j.lpm.2021.104071","article-title":"Familial partial lipodystrophy syndromes","volume":"50","author":"Fern\u00e1ndez-Pombo","year":"2021","journal-title":"Presse Med"},{"issue":"5","key":"2026043015232452300_lvag067-B81","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.3390\/jcm10051142","article-title":"Partial lipodystrophy and LMNA p.R545H variant","volume":"10","author":"Magno","year":"2021","journal-title":"J Clin Med"},{"issue":"6","key":"2026043015232452300_lvag067-B82","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1530\/eje.0.1490561","article-title":"Computed tomography assessment of fat distribution in male and female patients with Cushing's syndrome","volume":"149","author":"Rockall","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"2026043015232452300_lvag067-B83","doi-asserted-by":"publisher","first-page":"116137","DOI":"10.1016\/j.bcp.2024.116137","article-title":"Adipose tissue in cortisol excess: what Cushing's syndrome can teach US?","volume":"223","author":"Bavaresco","year":"2024","journal-title":"Biochem Pharmacol"},{"issue":"2","key":"2026043015232452300_lvag067-B84","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s12020-016-1002-x","article-title":"Type 1 familial partial lipodystrophy: understanding the K\u00f6bberling syndrome","volume":"54","author":"Guill\u00edn-Amarelle","year":"2016","journal-title":"Endocrine"},{"issue":"3","key":"2026043015232452300_lvag067-B85","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1097\/med.0000000000000537","article-title":"Glucose metabolism in Cushing's syndrome","volume":"27","author":"Sharma","year":"2020","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"2026043015232452300_lvag067-B86","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.metabol.2017.04.010","article-title":"Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy","volume":"72","author":"Akinci","year":"2017","journal-title":"Metabolism"},{"issue":"3","key":"2026043015232452300_lvag067-B87","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1210\/er.2016-1105","article-title":"Glucose metabolism abnormalities in cushing syndrome: from molecular basis to clinical management","volume":"38","author":"Scaroni","year":"2017","journal-title":"Endocr Rev"},{"key":"2026043015232452300_lvag067-B88","doi-asserted-by":"publisher","first-page":"284","DOI":"10.3389\/fendo.2018.00284","article-title":"Diabetes mellitus secondary to Cushing's disease","volume":"9","author":"Barbot","year":"2018","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"3","key":"2026043015232452300_lvag067-B89","doi-asserted-by":"publisher","first-page":"R49","DOI":"10.1530\/joe-14-0373","article-title":"Glucocorticoid treatment and endocrine pancreas function: implications for glucose homeostasis, insulin resistance and diabetes","volume":"223","author":"Rafacho","year":"2014","journal-title":"J Endocrinol"},{"issue":"5","key":"2026043015232452300_lvag067-B90","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1210\/jcem.85.5.6605","article-title":"Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)","volume":"85","author":"Garg","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B91","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/qjmed\/90.1.27","article-title":"Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy","volume":"90","author":"Jackson","year":"1997","journal-title":"QJM"},{"issue":"7","key":"2026043015232452300_lvag067-B92","doi-asserted-by":"publisher","first-page":"1433","DOI":"10.1194\/jlr.R700004-JLR200","article-title":"Thematic review series: adipocyte biology. Lipodystrophies: windows on adipose biology and metabolism","volume":"48","author":"Hegele","year":"2007","journal-title":"J Lipid Res"},{"issue":"8","key":"2026043015232452300_lvag067-B93","doi-asserted-by":"publisher","first-page":"3662","DOI":"10.1210\/jcem.87.8.8703","article-title":"Anticoagulant prophylaxis markedly reduces thromboembolic complications in Cushing's syndrome","volume":"87","author":"Boscaro","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2026043015232452300_lvag067-B94","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1097\/00001721-199904000-00006","article-title":"Abnormalities of von Willebrand factor are also part of the prothrombotic state of Cushing's syndrome","volume":"10","author":"Casonato","year":"1999","journal-title":"Blood Coagul Fibrinolysis"},{"issue":"2","key":"2026043015232452300_lvag067-B95","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.pathol.2018.11.004","article-title":"Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease","volume":"51","author":"Hussain","year":"2019","journal-title":"Pathology"},{"issue":"2","key":"2026043015232452300_lvag067-B96","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1172\/jci22382","article-title":"Unbuckling lipodystrophy from insulin resistance and hypertension","volume":"114","author":"Hegele","year":"2004","journal-title":"J Clin Invest"},{"issue":"4","key":"2026043015232452300_lvag067-B97","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1161\/atvbaha.112.300962","article-title":"Peroxisome proliferator-activated receptor-\u03b3 mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system","volume":"33","author":"Auclair","year":"2013","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"2026043015232452300_lvag067-B98","doi-asserted-by":"publisher","first-page":"684182","DOI":"10.3389\/fendo.2021.684182","article-title":"Case report: metreleptin treatment in a patient with a novel mutation for familial partial lipodystrophy type 3, presenting with uncontrolled diabetes and insulin resistance","volume":"12","author":"Lambadiari","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"6","key":"2026043015232452300_lvag067-B99","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1111\/cen.14426","article-title":"Cardiac phenotype in familial partial lipodystrophy","volume":"94","author":"Eldin","year":"2021","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"4","key":"2026043015232452300_lvag067-B100","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.diabet.2018.09.006","article-title":"Cardiometabolic assessment of lamin A\/C gene mutation carriers: a phenotype-genotype correlation","volume":"45","author":"Kwapich","year":"2019","journal-title":"Diabetes Metab"},{"issue":"6","key":"2026043015232452300_lvag067-B101","doi-asserted-by":"publisher","first-page":"2223","DOI":"10.1210\/jc.2007-2521","article-title":"Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy","volume":"93","author":"Vantyghem","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"2026043015232452300_lvag067-B102","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.2147\/dmso.S206053","article-title":"Familial partial lipodystrophy (FPLD): recent insights","volume":"13","author":"Bagias","year":"2020","journal-title":"Diabetes Metab Syndr Obes"},{"issue":"4","key":"2026043015232452300_lvag067-B103","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1046\/j.1365-2265.2000.01117.x","article-title":"How common are polycystic ovaries and the polycystic ovarian syndrome in women with Cushing's syndrome?","volume":"53","author":"Kaltsas","year":"2000","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"9","key":"2026043015232452300_lvag067-B104","doi-asserted-by":"publisher","first-page":"3083","DOI":"10.1210\/jcem.83.9.5084","article-title":"Menstrual abnormalities in women with Cushing's disease are correlated with hypercortisolemia rather than raised circulating androgen levels","volume":"83","author":"Lado-Abeal","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B105","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/cen.13504","article-title":"Bone mineral density in familial partial lipodystrophy","volume":"88","author":"Fern\u00e1ndez-Pombo","year":"2018","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"7","key":"2026043015232452300_lvag067-B106","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1016\/s2213-8587(16)00086-3","article-title":"Complications of Cushing's syndrome: state of the art","volume":"4","author":"Pivonello","year":"2016","journal-title":"Lancet Diabetes Endocrinol"},{"issue":"1","key":"2026043015232452300_lvag067-B107","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1111\/cen.13984","article-title":"Phenotypic diversity and glucocorticoid sensitivity in patients with familial partial lipodystrophy type 2","volume":"91","author":"Resende","year":"2019","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"12","key":"2026043015232452300_lvag067-B108","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1016\/s2215-0366(15)00356-9","article-title":"Anorexia nervosa: aetiology, assessment, and treatment","volume":"2","author":"Zipfel","year":"2015","journal-title":"Lancet Psychiatry"},{"issue":"4","key":"2026043015232452300_lvag067-B109","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s42000-022-00386-7","article-title":"Lipodystrophy-associated progeroid syndromes","volume":"21","author":"Ara\u00fajo-Vilar","year":"2022","journal-title":"Hormones (Athens)"},{"issue":"10","key":"2026043015232452300_lvag067-B110","doi-asserted-by":"publisher","first-page":"bvaa108","DOI":"10.1210\/jendso\/bvaa108","article-title":"Atypical progeroid syndrome and partial lipodystrophy due to LMNA gene p.R349W mutation","volume":"4","author":"Magno","year":"2020","journal-title":"J Endocr Soc"},{"issue":"14","key":"2026043015232452300_lvag067-B111","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1056\/NEJMcp1803175","article-title":"Anorexia Nervosa","volume":"382","author":"Mitchell","year":"2020","journal-title":"N Engl J Med"},{"issue":"2","key":"2026043015232452300_lvag067-B112","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1080\/17446651.2020.1735360","article-title":"Diagnostic strategies and clinical management of lipodystrophy","volume":"15","author":"Foss-Freitas","year":"2020","journal-title":"Expert Rev Endocrinol Metab"},{"issue":"4","key":"2026043015232452300_lvag067-B113","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1007\/s40519-019-00716-6","article-title":"Psychopathological and psychiatric evaluation of patients affected by lipodystrophy","volume":"25","author":"Calabr\u00f2","year":"2020","journal-title":"Eat Weight Disord"},{"issue":"3","key":"2026043015232452300_lvag067-B114","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1002\/erv.2963","article-title":"Continuous glucose monitoring assessment in patients suffering from anorexia nervosa reveals chronic prolonged mild hypoglycemia all over the nycthemeron","volume":"31","author":"Germain","year":"2023","journal-title":"Eur Eat Disord Rev"},{"issue":"6","key":"2026043015232452300_lvag067-B115","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1002\/eat.23051","article-title":"Increased lipid and lipoprotein concentrations in anorexia nervosa: a systematic review and meta-analysis","volume":"52","author":"Hussain","year":"2019","journal-title":"Int J Eat Disord"},{"issue":"5","key":"2026043015232452300_lvag067-B116","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1080\/10640266.2019.1642031","article-title":"Clinical guidance on osteoporosis and eating disorders: the NEDA continuing education series","volume":"27","author":"Mehler","year":"2019","journal-title":"Eat Disord"},{"key":"2026043015232452300_lvag067-B117","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.jpsychores.2017.05.011","article-title":"Pharmacological treatment options for low bone mineral density and secondary osteoporosis in anorexia nervosa: a systematic review of the literature","volume":"98","author":"Robinson","year":"2017","journal-title":"J Psychosom Res"},{"issue":"8","key":"2026043015232452300_lvag067-B118","doi-asserted-by":"publisher","first-page":"E1493","DOI":"10.1210\/jc.2014-1353","article-title":"Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy","volume":"99","author":"Christensen","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2026043015232452300_lvag067-B119","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1002\/eat.20388","article-title":"Patterns of menstrual disturbance in eating disorders","volume":"40","author":"Poyastro Pinheiro","year":"2007","journal-title":"Int J Eat Disord"},{"issue":"10","key":"2026043015232452300_lvag067-B120","doi-asserted-by":"publisher","first-page":"2172","DOI":"10.1016\/j.biochi.2012.01.021","article-title":"Adiponectin and leptin in human severe insulin resistance\u2014diagnostic utility and biological insights","volume":"94","author":"Groeneveld","year":"2012","journal-title":"Biochimie"},{"issue":"4","key":"2026043015232452300_lvag067-B121","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1097\/mop.0000000000001033","article-title":"Genetic evaluation in children with short stature","volume":"33","author":"Zhou","year":"2021","journal-title":"Curr Opin Pediatr"},{"issue":"3","key":"2026043015232452300_lvag067-B122","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1210\/er.2013-1067","article-title":"Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances","volume":"35","author":"Alatzoglou","year":"2014","journal-title":"Endocr Rev"},{"issue":"6","key":"2026043015232452300_lvag067-B123","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1016\/j.beem.2016.09.005","article-title":"Genetic causes of isolated and combined pituitary hormone deficiency","volume":"30","author":"Giordano","year":"2016","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B124","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1007\/s11154-020-09604-2","article-title":"Growth hormone deficiency and replacement in children","volume":"22","author":"Boguszewski","year":"2021","journal-title":"Rev Endocr Metab Disord"},{"issue":"11","key":"2026043015232452300_lvag067-B125","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1016\/j.metabol.2014.07.010","article-title":"Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome","volume":"63","author":"Pelosini","year":"2014","journal-title":"Metabolism"},{"issue":"6","key":"2026043015232452300_lvag067-B126","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1056\/NEJMoa0706898","article-title":"Phenotype and course of Hutchinson-Gilford progeria syndrome","volume":"358","author":"Merideth","year":"2008","journal-title":"N Engl J Med"},{"issue":"8","key":"2026043015232452300_lvag067-B127","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1038\/ng.2670","article-title":"An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy","volume":"45","author":"Weedon","year":"2013","journal-title":"Nat Genet"},{"issue":"11","key":"2026043015232452300_lvag067-B128","doi-asserted-by":"publisher","first-page":"3990","DOI":"10.1210\/jcem.85.11.6984","article-title":"Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society","volume":"85","author":"GH Research Society","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2026043015232452300_lvag067-B129","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1080\/19491034.2018.1509659","article-title":"Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects","volume":"9","author":"Gambineri","year":"2018","journal-title":"Nucleus"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ejendo\/advance-article-pdf\/doi\/10.1093\/ejendo\/lvag067\/68130072\/lvag067.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/194\/5\/R1\/68130072\/lvag067.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ejendo\/article-pdf\/194\/5\/R1\/68130072\/lvag067.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T19:23:28Z","timestamp":1777577008000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/194\/5\/R1\/8660316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,21]]},"references-count":129,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,4,30]]}},"URL":"https:\/\/doi.org\/10.1093\/ejendo\/lvag067","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2026,4,21]]}}}