{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:29Z","timestamp":1784557049707,"version":"3.55.0"},"reference-count":42,"publisher":"Bioscientifica","content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,4,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>The exact cause of the disease is unknown.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1530\/edm-14-0119","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T03:31:26Z","timestamp":1430796686000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":4,"title":["A case of Madelung's disease accompanied by Klinefelter's syndrome"],"prefix":"10.1530","volume":"2015","author":[{"given":"Aysenur","family":"Ozderya","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Temizkan","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kadriye","family":"Aydin Tezcan","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital, 34890, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feyza Yener","family":"Ozturk","sequence":"additional","affiliation":[{"name":"1 Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuksel","family":"Altuntas","sequence":"additional","affiliation":[{"name":"1 Division of Endocrinology and Metabolic Diseases, Sisli Etfal Training and Research Hospital, Istanbul, 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