Evidence map›Paper›PMID 40415699›Full record

ArticleAdipocyte2025

One-year metreleptin in Colombian sisters with congenital leptin deficiency.

Hernan Yupanqui-Lozno, Jancy Andrea Huertas-Quintero, Maria E Yupanqui-Velazco, Rocío A Salinas-Osornio, Carlos M Restrepo, Adriana Gonzalez, Edna J Nava-Gonzalez, Luis G Celis-Regalado, Constanza Neri Morales, Victor M Hernandez-Escalante and 5 more

Abstract readCase Reports
In one paragraph

Article in Adipocyte, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Hernan Yupanqui-LoznoClinical Research Department, Dexa Diab IPS, Bogotá, Colombia.ORCID 0000-0001-5408-7648
Jancy Andrea Huertas-QuinteroClinical Research Department, Dexa Diab IPS, Bogotá, Colombia.ORCID 0000-0001-6659-1980
Maria E Yupanqui-VelazcoClinical Research Department, Dexa Diab IPS, Bogotá, Colombia.ORCID 0000-0002-1064-5844
Rocío A Salinas-OsornioCentro de Investigación y Desarrollo Científico, Ciencias de la Salud, Universidad del Valle de Atemajac (UNIVA), Zapopan, México.ORCID 0000-0002-4757-3901
Carlos M RestrepoGeniURos, CIGGUR, Instituto de Medicina Traslacional, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.ORCID 0000-0001-6410-0084
Adriana GonzalezClinical Research Department, Dexa Diab IPS, Bogotá, Colombia.
Edna J Nava-GonzalezFacultad de Salud Pública y Nutrición (Faspyn), Universidad Autónoma de Nuevo León, Monterrey, México.ORCID 0000-0001-8818-2600
Luis G Celis-RegaladoFacultad de Medicina, Universidad de La Sabana, Chía, Colombia.ORCID 0000-0002-0338-6258
Constanza Neri MoralesFacultad de Medicina, Universidad de La Sabana, Chía, Colombia.
Victor M Hernandez-EscalanteFacultad de Medicina, Universidad Autónoma de Yucatán, Mérida, México.ORCID 0000-0001-8574-7899
Julio LicinioDepartment of Genetics, SUNY Upstate Medical University, Syracuse, NY, USA.
Hugo A Laviada-MolinaEscuela de Ciencias de la Salud, Universidad Marista de Mérida, Yucatan, México.ORCID 0000-0002-1061-3164
Ernesto Rodriguez-AyalaClinical Research Department, Dexa Diab IPS, Bogotá, Colombia.ORCID 0000-0002-5921-7816
Carlos ArangoHospital Universitario Mayor, Universidad del Rosario, Bogotá, Colombia.
Raul A BastarracheaPopulation Health Program, Texas Biomedical Research Institute, San Antonio, TX, USA.ORCID 0000-0002-4034-3062

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We discovered two adult sisters in Colombia, lineally consanguineous, with severe obesity and undetectable serum leptin levels despite markedly elevated body fat. Their clinical profile included childhood-onset extreme weight gain, intense hunger, hyperphagia, hypogonadotropic hypogonadism, and family history of obesity. Direct sequencing of the LEP gene revealed a novel homozygous 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/m

Indexed as

LeptinAdultColombiaFemaleHumansSiblingsLeptinmetreleptinColombian sistersCongenital leptin deficiencyLEP generecombinant human leptin (metreleptin); leptin replacement therapy

Identifiers

PMID40415699
PMCPMC12118419

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.