{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:57:39Z","timestamp":1790816259019,"version":"4.1.0"},"reference-count":24,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008678","name":"Leipzig University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008678","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Familial partial lipodystrophy (FPLD) is a rare genetic disorder leading to adipose tissue deficiency\/redistribution and metabolic dysregulation with insulin resistance, diabetes mellitus, and dyslipidemia. Coincidence of FPLD and autoantibody-positive type 1 diabetes has not been published yet. We identified a female patient with the initial diagnosis of autoantibody-positive type 1 diabetes who developed severe insulin resistance with daily insulin doses up to 300\u2005IU\/d, acanthosis nigricans, polycystic ovary syndrome, hyperphagia, myalgia, and dyslipidemia. Since her phenotype was suspicious for FPLD, genetic testing was initiated. It revealed a heterozygous missense variant at hot spot codon c.1444 within Lamin A\/C (LMNA) (p.Arg482Trp). Insulin resistance and hyperphagia improved during treatment with the glucagon-like peptide 1-receptor agonist semaglutide in addition to insulin therapy. Thus, we report about a patient with FPLD2 and concomitant type 1 diabetes. This case demonstrates that coincidence of these 2 severe metabolic dysregulations challenges diagnosis, management, and treatment but demands awareness in our health care system for rare endocrine diseases to improve quality of care.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf265","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T08:34:06Z","timestamp":1762763646000},"source":"Crossref","is-referenced-by-count":1,"title":["Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy"],"prefix":"10.1210","volume":"3","author":[{"given":"Michelle","family":"Krienke","sequence":"first","affiliation":[{"name":"Medical Department III- Endocrinology, Nephrology, Rheumatology, University of Leipzig, Medical Center , Leipzig 04103 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut H J","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen , Essen 45147 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Buettner","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology, Charit\u00e9\u2014Universit\u00e4tsmedizin Berlin, Corporate Member of Freie Universit\u00e4t Berlin and Humboldt Universit\u00e4t zu Berlin , Berlin 10117 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Heart and Diabetes Center NRW, University Hospital, Ruhr University Bochum , Bochum 44801 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabell","family":"Schumann","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital M\u00fcnster , M\u00fcnster 48149 ,","place":["Germany"]},{"name":"Institute of Human Genetics, Leipzig University Medical Center , Leipzig 04103 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-556X","authenticated-orcid":false,"given":"Konstanze","family":"Miehle","sequence":"additional","affiliation":[{"name":"Medical Department III- Endocrinology, Nephrology, Rheumatology, University of Leipzig, Medical Center , Leipzig 04103 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"issue":"12","key":"2025111003340080600_luaf265-B1","doi-asserted-by":"crossref","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 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