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One-year metreleptin in Colombian sisters with congenital leptin deficiency

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dc.creatorBastarrachea, Raul A.spa
dc.creatorArango, Carlosspa
dc.creatorRodriguez-Ayala, Ernestospa
dc.creatorLaviada-Molina, Hugo A.spa
dc.creatorLicinio, Juliospa
dc.creatorHernandez-Escalante, Victor M.spa
dc.creatorNeri Morales, Constanzaspa
dc.creatorCelis-Regalado, Luis G.spa
dc.creatorNava-Gonzalez, Edna J.spa
dc.creatorGonzalez, Adrianaspa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.creatorSalinas-Osornio, Rocío A.spa
dc.creatorYupanqui-Velazco, Maria E.spa
dc.creatorHuertas-Quintero, Jancy Andreaspa
dc.creatorYupanqui-Lozno, Hernanspa
dc.date.accessioned2025-07-21T16:51:14Z
dc.date.available2025-07-21T16:51:14Z
dc.date.created2025-01-01spa
dc.date.issued2025-01-01spa
dc.description.abstractWe discovered two adult sisters in Colombia, lineally consanguineous, with severe obesity andundetectable serum leptin levels despite markedly elevated body fat. Their clinical profileincluded childhood-onset extreme weight gain, intense hunger, hyperphagia, hypogonadotropichypogonadism, and family history of obesity. Direct sequencing of the LEP gene revealed a novelhomozygous missense mutation in exon 3 (c.350G>T [p.C117F]). The presence of this mutation,undetectable leptin, and severe obesity confirmed a diagnosis of monogenic leptin deficiency.Here we describe the clinical outcomes of a 12-month treatment with recombinant human leptin(metreleptin). Metabolic and endocrine assessments were conducted before and after therapy.Metreleptin therapy significantly reduced BMI: from 59 to 38 kg/m2 (OBX1, age 27) and 60 to 48kg/m2 (OBX2, age 24). Total body fat mass decreased, serum lipids normalized, and insulinsensitivity improved. Hypogonadotropic hypogonadism reversed, and menstruation resumed.Thus, metreleptin reversed the major metabolic and endocrine abnormalities associated withleptin deficiency in these sisters. Limitations include the small sample size, absence of a controlgroup, and lack of anti-metreleptin antibody measurements. Nevertheless, our findings supportthat leptin replacement with metreleptin is currently the only effective hormonal treatment forthis monogenic form of human obesity.eng
dc.format.mimetypeapplication/pdfspa
dc.identifier.doihttps://doi.org/10.1080/21623945.2025.2508188spa
dc.identifier.issn2162-3945spa
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/46096
dc.language.isoengspa
dc.publisherTaylor & Francisspa
dc.relation.ispartofAdipocyte 2025, Vol. 14, No. 1spa
dc.relation.urihttps://www.tandfonline.com/doi/full/10.1080/21623945.2025.2508188#d1e575spa
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccessspa
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/spa
dc.sourceAdipocytespa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordCongenital leptin deficiencyeng
dc.subject.keywordColombian sisterseng
dc.subject.keywordLEP geneeng
dc.subject.keywordrecombinant human leptin(metreleptin)eng
dc.subject.keywordleptin replacement therapyeng
dc.titleOne-year metreleptin in Colombian sisters with congenital leptin deficiencyspa
dc.typearticlespa
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersionspa
dc.type.spaArtículo de Investigaciónspa
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