ArticleArquivos brasileiros de endocrinologia e metabologia2010
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy.
Article in Arquivos brasileiros de endocrinologia e metabologia, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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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.
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Who cites it
50 citing papers in PubMed.
- Randomized double-blind placebo-controlled study of leptin administration after gastric bypass.Obesity (Silver Spring, Md.) · 2013Trial
- Short-term plasticity of gray matter associated with leptin deficiency and replacement.The Journal of clinical endocrinology and metabolism · 2011Trial
- Association between leptin gene polymorphisms and hematological metabolic parameters in obese Saudi adults.Frontiers in medicine · 2026Article
- Article
- Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD): the interplay of gut microbiome, insulin resistance, and diabetes.Frontiers in medicine · 2025Review
- Non-alcoholic fatty liver disease: pathogenesis and models.American journal of translational research · 2024Review
- The Mechanism of Leptin Resistance in Obesity and Therapeutic Perspective.Advances in experimental medicine and biology · 2024Review
- The Regulation of Metabolic Homeostasis by Incretins and the Metabolic Hormones Produced by Pancreatic Islets.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Review
- Non-Alcoholic Fatty Liver Disease: Translating Disease Mechanisms into Therapeutics Using Animal Models.International journal of molecular sciences · 2023Review
- Genetic and Diet-Induced Animal Models for Non-Alcoholic Fatty Liver Disease (NAFLD) Research.International journal of molecular sciences · 2022Review
- Tetra-Primer Amplification-Refractory Mutation System (ARMS)-PCR for Genotyping Mouse Leptin Gene Mutation.Animals : an open access journal from MDPI · 2022Article
- Buprenorphine differentially alters breathing among four congenic mouse lines as a function of dose, sex, and leptin status.Respiratory physiology & neurobiology · 2022Article
- Metabolomic and transcriptomic profiling of adult mice and larval zebrafish leptin mutants reveal a common pattern of changes in metabolites and signaling pathways.Cell & bioscience · 2021Article
- Obesity and its impact on COVID-19.Journal of molecular medicine (Berlin, Germany) · 2021Review
- Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.Eating and weight disorders : EWD · 2021Article
- A Rare Potential Pathogenic Variant in theDiabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- A Review of Current Trends with Type 2 Diabetes Epidemiology, Aetiology, Pathogenesis, Treatments and Future Perspectives.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Review
- Leptin Concentrations in Non-Obese and Obese Non-Diabetes Nigerian-Africans.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.Frontiers in endocrinology · 2021Review
- Adipose tissue in health and disease.Open biology · 2020Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
To describe our 10-year experience in treating leptin-deficient humans. Three adults and one boy presented with childhood-onset morbid obesity, hypogonadism and family history of obesity and early death. Serum leptin was inappropriately low. A recessive C105T leptin gene mutation was identified. Metabolic and endocrine assessments were conducted, before and while on and off leptin. The adults' body mass index decreased from 51.2 ± 2.5 to 29.5 ± 2.8 kg/m(2). Serum lipids normalized, insulin resistance decreased, and one of the initially diabetic females became normoglycemic. Hypogonadotropic hypogonadism was reversed, and other changes were observed in the adrenal, sympathetic, somatotropic and thyroid functions. Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency. Some of these results may be extrapolated to other diseases.
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Registered trials
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 OpenQuestion graph.