{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T04:05:59Z","timestamp":1751947559115,"version":"3.41.2"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cardiovasc. Diabetol. \u2013 Endocrinol. Rep."],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The cases of obesity worldwide have increased significantly, with this condition being considered a global pandemic. This pathology poses a major health problem due to its high morbidity burden. Its cause in the majority of cases is multifactorial; however, there are various cases of monogenic obesity reported in the literature. Mutation in the leptin gene causes a marked decrease in leptin levels, leading to intense hyperphagia and associated morbid obesity. Substituting leptin with metreleptin is a treatment option for these patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>We present the case of a patient with morbid obesity due to a single mutation in the LEP gene and approximately four years of treatment with metreleptin as a substitute therapy. Weight decreased from 154 to 64\u00a0kg and BMI decreased from 68.4 to 28.4\u00a0kg\/m<jats:sup>2<\/jats:sup>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>The patient achieved a reduction of 40\u00a0kg\/m2 in BMI, corresponding to a body weight loss of 90\u00a0kg, with a significant improvement in associated metabolic comorbidities, acne, and hirsutism.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s40842-024-00207-3","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T09:17:43Z","timestamp":1751879863000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Response to long-term pharmacological management of metreleptin in a patient with monogenic obesity due to mutation in the LEP gene"],"prefix":"10.1186","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8345-6155","authenticated-orcid":false,"given":"Miguel Augusto","family":"O\u2019Meara Novoa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3697-2302","authenticated-orcid":false,"given":"Maria Camila","family":"Reyes Cajic\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5810-9485","authenticated-orcid":false,"given":"Daniel","family":"Larrarte-Arenas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer Alexandra","family":"Palencia \u00c1vila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"issue":"6","key":"207_CR1","doi-asserted-by":"publisher","first-page":"2087","DOI":"10.1053\/j.gastro.2007.03.052","volume":"132","author":"CL Ogden","year":"2007","unstructured":"Ogden CL, Yanovski SZ, Carroll MD, Flegal KM. The epidemiology of obesity. Gastroenterology. 2007;132(6):2087\u2013102.","journal-title":"Gastroenterology"},{"key":"207_CR2","volume-title":"World Obesity Atlas 2024","author":"World Obesity Federation","year":"2024","unstructured":"World Obesity Federation. World Obesity Atlas 2024. London: World Obesity Federation; 2024."},{"issue":"S7","key":"207_CR3","doi-asserted-by":"publisher","first-page":"S55","DOI":"10.1038\/ijo.2008.239","volume":"32","author":"S O\u2019Rahilly","year":"2008","unstructured":"O\u2019Rahilly S, Farooqi IS. Human obesity as a heritable disorder of the central control of energy balance. Int J Obes. 2008;32(S7):S55-61.","journal-title":"Int J Obes"},{"issue":"1","key":"207_CR4","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1002\/pbc.23372","volume":"58","author":"WK Chung","year":"2011","unstructured":"Chung WK. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2011;58(1):122\u20138.","journal-title":"Pediatr Blood Cancer"},{"issue":"1","key":"207_CR5","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.metabol.2014.08.004","volume":"64","author":"HK Park","year":"2015","unstructured":"Park HK, Ahima RS. Physiology of leptin: energy homeostasis, neuroendocrine function and metabolism. Metabolism. 2015;64(1):24\u201334.","journal-title":"Metabolism"},{"issue":"3","key":"207_CR6","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1159\/000445061","volume":"9","author":"H Huvenne","year":"2016","unstructured":"Huvenne H, Dubern B, Cl\u00e9ment K, Poitou C. Rare genetic forms of obesity: clinical approach and current treatments in 2016. Obes Facts. 2016;9(3):158\u201373.","journal-title":"Obes Facts"},{"issue":"1","key":"207_CR7","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1586\/17512433.2016.1096772","volume":"9","author":"CA Meehan","year":"2016","unstructured":"Meehan CA, Cochran E, Kassai A, Brown RJ, Gorden P. Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy. Expert Rev Clin Pharmacol. 2016;9(1):59\u201368.","journal-title":"Expert Rev Clin Pharmacol"},{"issue":"5","key":"207_CR8","doi-asserted-by":"publisher","first-page":"342","DOI":"10.3390\/genes10050342","volume":"10","author":"H Yupanqui-Lozno","year":"2019","unstructured":"Yupanqui-Lozno H, Bastarrachea RA, Yupanqui-Velazco ME, Alvarez-Jaramillo M, Medina-M\u00e9ndez E, Giraldo-Pe\u00f1a AP, et al. Congenital leptin deficiency and leptin gene missense mutation found in two Colombian sisters with severe obesity. Genes. 2019;10(5):342.","journal-title":"Genes"},{"key":"207_CR9","unstructured":"Instituto Nacional de Vigilancia de Medicamentos y Alimentos (INVIMA). Acta No. 06 DE. 2020. Available from: \nhttps:\/\/www.invima.gov.co\/sites\/default\/files\/medicamentos-productos-biologicos\/2023-10\/SEM\/ACTAS\/2020-\/Acta%20No.%2006%20de%202020%20SEM%20-%20Ultima.pdf."},{"issue":"12","key":"207_CR10","doi-asserted-by":"publisher","first-page":"4077","DOI":"10.1007\/s11695-019-04200-z","volume":"29","author":"J Baxter","year":"2019","unstructured":"Baxter J, Armijo PR, Flores L, Krause C, Samreen S, Tanner T. Updates on monogenic obesity in a multifactorial disease. Obes Surg. 2019;29(12):4077\u201383.","journal-title":"Obes Surg"},{"key":"207_CR11","doi-asserted-by":"crossref","unstructured":"Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 1997;387(6636):903\u20138.","DOI":"10.1038\/43185"},{"issue":"5","key":"207_CR12","doi-asserted-by":"publisher","first-page":"E757","DOI":"10.1210\/jc.2015-1036","volume":"100","author":"H Huvenne","year":"2015","unstructured":"Huvenne H, Le Beyec J, P\u00e9pin D, Alili R, Kherchiche PP, Jeannic E, et al. Seven novel deleterious LEPR mutations found in early-onset obesity: a \u0394Exon6\u20138 shared by subjects from Reunion Island, France, suggests a founder effect. J Clin Endocrinol Metab. 2015;100(5):E757\u201366.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"207_CR13","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1056\/NEJMoa1406653","volume":"372","author":"M Wabitsch","year":"2015","unstructured":"Wabitsch M, Funcke JB, Lennerz B, Kuhnle-Krahl U, Lahr G, Debatin KM, et al. Biologically inactive leptin and early-onset extreme obesity. 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Leptin decreases energy expenditure despite increased thyroid hormone in patients with lipodystrophy. J Clin Endocrinol Metab. 2021;106(10):e4163\u201378.","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"207_CR17","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s11695-018-3525-0","volume":"29","author":"PE O\u2019Brien","year":"2018","unstructured":"O\u2019Brien PE, Hindle A, Brennan L, Skinner S, Burton P, Smith A, et al. Long-term outcomes after bariatric surgery: a systematic review and meta-analysis of weight loss at 10 or more years for all bariatric procedures and a single-centre review of 20-year outcomes after adjustable gastric banding. Obes Surg. 2018;29(1):3\u201314. Cited 2019 Nov 22.","journal-title":"Obes Surg"}],"container-title":["Cardiovascular Diabetology \u2013 Endocrinology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40842-024-00207-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40842-024-00207-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40842-024-00207-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T09:17:46Z","timestamp":1751879866000},"score":1,"resource":{"primary":{"URL":"https:\/\/clindiabetesendo.biomedcentral.com\/articles\/10.1186\/s40842-024-00207-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,7]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["207"],"URL":"https:\/\/doi.org\/10.1186\/s40842-024-00207-3","relation":{},"ISSN":["3059-4057"],"issn-type":[{"value":"3059-4057","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,7]]},"assertion":[{"value":"5 July 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 July 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":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient has provided consent to the publication of this case.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"No competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"13"}}