{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T04:16:26Z","timestamp":1788322586894,"version":"build-2803163510"},"reference-count":79,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/00514"],"award-info":[{"award-number":["PI22\/00514"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["ED431C 2024\/11"],"award-info":[{"award-number":["ED431C 2024\/11"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Intern Med"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions. Despite major advances in understanding adipose tissue biology and in human genetic technologies, diagnosis of lipodystrophy is still commonly delayed or missed. Conversely, increasing use of next\u2010generation sequencing has led to proliferation of proposed new genetic causes of lipodystrophy with variable supporting evidence. To address these challenges, an international expert working group from the European Consortium for Lipodystrophies first developed a consensus definition of lipodystrophy as deficient development and\/or inadequate maintenance of adipose tissue not attributable to nutritional deprivation or a systemic catabolic state. Anatomical adipose deficiency alone is generally insufficient for diagnosis, with evidence of adipose tissue dysfunction or pathology also usually required. Building on this definition, a framework for evaluating candidate monogenic lipodystrophy syndromes is suggested, based on the strength of human phenotypic, genetic, and biological evidence. Primacy was assigned to direct evidence from affected individuals, with genetic and biological evidence considered supportive but not determinative. This approach accommodates both the variable penetrance and expressivity characteristic of many lipodystrophy syndromes and potential discrepancies between human observations and experimental models. Although the proposed definition is applicable across all forms of lipodystrophy, the classification system described here is restricted to monogenic disorders. Together, these tools aim to improve clinical recognition, promote diagnostic consistency, and provide a robust and adaptable framework for evaluating emerging gene\u2013disease associations in lipodystrophy.<\/jats:p>","DOI":"10.1111\/joim.70157","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T03:41:26Z","timestamp":1788320486000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6539-3069","authenticated-orcid":false,"given":"Robert K.","family":"Semple","sequence":"first","affiliation":[{"name":"Institute for Neuroscience and Cardiovascular Research and Institute of Genetics and Cancer The University of Edinburgh  Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6795-8430","authenticated-orcid":false,"given":"Martin","family":"Wabitsch","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Diabetes Department of Pediatrics and Adolescent Medicine ENDO\u2010ERN Center for Rare Endocrine Diseases Ulm University Medical Center  Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8634-4845","authenticated-orcid":false,"given":"Baris","family":"Akinci","sequence":"additional","affiliation":[{"name":"Department of Technological Research Izmir Biomedicine and Genome Center  Izmir Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0228-1304","authenticated-orcid":false,"given":"Saif","family":"Alyaarubi","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Oman Medical Specialty Board  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1832-1262","authenticated-orcid":false,"given":"Marjoleine F.","family":"Broekema","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam University Medical Center, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2589-7382","authenticated-orcid":false,"given":"Rebecca J.","family":"Brown","sequence":"additional","affiliation":[{"name":"National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0701-642X","authenticated-orcid":false,"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center Endocrinology Unit ENDO\u2010ERN Center for Rare Endocrine Diseases University Hospital of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3611-5878","authenticated-orcid":false,"given":"Carolina","family":"Cecchetti","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes Prevention and Care Department of Medical and Surgical Sciences ENDO\u2010ERN Center for Rare Endocrine Diseases IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Unit of Endocrinology and Metabolic Diseases G.B. Morgagni \u2013 L.Pierantoni Hospital  Forl\u00ec Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3054-9929","authenticated-orcid":false,"given":"Solaf M.","family":"Elsayed","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Faculty of Medicine Ain Shams University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1268-7538","authenticated-orcid":false,"given":"Ant\u00eda","family":"Fern\u00e1ndez\u2010Pombo","sequence":"additional","affiliation":[{"name":"UETeM\u2010Molecular Pathology Group Department of Psychiatry, Radiology, Public Health, Nursing and Medicine Instituto de Investigaci\u00f3n Sanitaria Santiago de Compostela\u2013Center for Research in Molecular Medicine and Chronic Diseases (IDIS\u2013CIMUS) University of Santiago de Compostela  Santiago de Compostela 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