Congenital Leptin Deficiency Due to Homozygosity for the Δ133G Mutation: Report of Another Case and Evaluation of Response to Four Years of Leptin Therapy

Congenital leptin deficiency is associated with severe early-onset obesity in humans

Montague, C. T., Farooqi, I. S., Whitehead, J. P., Soos, M. A., Rau, H., Wareham, N. J., Sewter, C. P., Digby, J. E., Mohammed, S. N., Hurst, J. A., et al. (1997) · Nature · doi:10.1038/43185 · Cited by 2,936

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Clément, K., Vaisse, C., Lahlou, N., Cabrol, S., Pelloux, V., Cassuto, D., Gourmelen, M., Dina, C., Chambaz, J., Lacorte, J.-M., et al. (1998) · Nature · doi:10.1038/32911 · Cited by 2,346

Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression

Lord, G. M., Matarese, G., Howard, J. K., Baker, R. J., Bloom, S. R., & Lechler, R. I. (1998) · Nature · doi:10.1038/29795 · Cited by 2,178

Effects of Recombinant Leptin Therapy in a Child with Congenital Leptin Deficiency

Farooqi, I. S., Jebb, S. A., Langmack, G., Lawrence, E., Cheetham, C. H., Prentice, A. M., Hughes, I. A., McCamish, M. A., & O'Rahilly, S. (1999) · New England Journal of Medicine · doi:10.1056/nejm199909163411204 · Cited by 1,998

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency

Farooqi, I. S., Matarese, G., Lord, G. M., Keogh, J. M., Lawrence, E., Agwu, C., Sanna, V., Jebb, S. A., Perna, F., Fontana, S., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci15693 · Cited by 1,373

A leptin missense mutation associated with hypogonadism and morbid obesity

Strobel, A., Issad, T., Camoin, L., Ozata, M., & Strosberg, A. D. (1998) · Nature Genetics · doi:10.1038/ng0398-213 · Cited by 1,158

Role for Stearoyl-CoA Desaturase-1 in Leptin-Mediated Weight Loss

Cohen, P., Miyazaki, M., Socci, N. D., Hagge-Greenberg, A., Liedtke, W., Soukas, A. A., Sharma, R., Hudgins, L. C., Ntambi, J. M., & Friedman, J. M. (2002) · Science · doi:10.1126/science.1071527 · Cited by 826

Human Leptin Deficiency Caused by a Missense Mutation: Multiple Endocrine Defects, Decreased Sympathetic Tone, and Immune System Dysfunction Indicate New Targets for Leptin Action, Greater Central than Peripheral Resistance to the Effects of Leptin, and Spontaneous Correction of Leptin-Mediated Defects

Ozata, M., Ozdemir, I. C., & Licinio, J. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.10.5999 · Cited by 739

The role of falling leptin levels in the neuroendocrine and metabolic adaptation to short-term starvation in healthy men

Chan, J. L., Heist, K., DePaoli, A. M., Veldhuis, J. D., & Mantzoros, C. S. (2003) · Journal of Clinical Investigation · doi:10.1172/jci17490 · Cited by 697

Leptin Prevents Fasting-Induced Suppression of Prothyrotropin-Releasing Hormone Messenger Ribonucleic Acid in Neurons of the Hypothalamic Paraventricular Nucleus*

Légrádi, G., Emerson, C. H., Ahima, R. S., Flier, J. S., & Lechan, R. M. (1997) · Endocrinology · doi:10.1210/en.138.6.2569 · Cited by 505

Photoperiod-Induced Increases in Bone Mineral Apposition Rate in Siberian Hamsters and the Involvement of Seasonal Leptin Changes

Kokolski, M., Ebling, F. J. P., Henstock, J. R., & Anderson, S. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00357 · Cited by 3

Genetic variations in the regulation of energetic balance

Pankov, Y. A. (2010) · Biomeditsinskaya Khimiya · doi:10.18097/pbmc20105602152 · Cited by 3

Intensive Therapies for the Treatment of Pediatric Obesity

Han, J. C., & Yanovski, J. A. (2008) · Issues in clinical child psychology · doi:10.1007/978-0-387-76924-0_15 · Cited by 3

Congenital leptin receptor deficiency: A novel leptin receptor gene mutation in an Indian family producing severe early-onset monogenic obesity

Patil, P. P., Rajagara, S., Dhamankar, S., Yalamgonde, M., & Thakare, P. (2023) · Journal of Pediatric Endocrinology and Diabetes · doi:10.25259/jped_5_2023 · Cited by 2

Malnutrition and infection in industrialized countries

Cunningham–Rundles, S., & Lin, D. H. (2007) · Birkhäuser Basel eBooks · doi:10.1007/978-3-7643-8099-1_5 · Cited by 2

Obesity and Weight Loss: The Influence of Thyroid Hormone on Adipokines

Luvizotto, R. D. A. M., Jos, S., de, M., Síbio, M. T. D., Nagamati, K., & Regina, C. (2012) · InTech eBooks · doi:10.5772/46179 · Cited by 2

Mouse genetics in drug target discovery and validation: no simple answers to complex problems

Russ, A. P., & Grosse, J. (2007) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2.10.1379 · Cited by 2

Genetics of Female Infertility in Humans

Bhagavath, B., & Layman, L. C. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00040-9 · Cited by 2

Genetic Syndromes Associated with Obesity

Farooqi, I. S., & O’Rahilly, S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-18907-1.00028-7 · Cited by 2

Genetic Syndromes Associated with Obesity

Farooqi, I. S., & O’Rahilly, S. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-5583-9.00029-0 · Cited by 2

Pathogenesis of the Metabolic Syndrome

Tobe, K., Yamauchi, T., Kubota, N., Hara, K., Ueki, K., & Kadowaki, T. (2007) · Springer eBooks · doi:10.1007/978-1-84628-911-8_3 · Cited by 2

Short Hypoxia Does not Affect Plasma Leptin in Healthy Men under Euglycemic Clamp Conditions

Schmoller, A., Voss, M., Gehring, H., Rudolf, S., Schweiger, U., Schultes, B., & Oltmanns, K. M. (2009) · International Journal of Endocrinology · doi:10.1155/2009/270698 · Cited by 2

Das Gehirn. Wie ein Organ unsere Essensentscheidungsteuert Die physiologische Kontrolle des Essverhaltens verstehen

Lippert, R. N. (2023) · doi:10.5771/9783987400087-15 · Cited by 1

Changes in hippocampal volume, synaptic plasticity and amylin sensitivity in an animal model of type 2 diabetes are associated with increased vulnerability to amyloid-beta in advancing age

Tarhan, M., Hartl, T., Shchyglo, O., Colitti-Klausnitzer, J., Kuhla, A., Breuer, T. M., & Manahan‐Vaughan, D. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1373477 · Cited by 2

Tratamiento farmacológico de la obesidad en niños

Coyote-Estrada, N., & Miranda‐Lora, A. L. (2008) · Boletín Médico del Hospital Infantil de México · Cited by 1

Comment repérer une obésité génétique ?

Poitou, C., & Clément, K. (2010) · Obésité · doi:10.1007/s11690-010-0241-x · Cited by 1

Energy Homeostasis and Neuronal Regulation of Bone Remodeling

Ferron, M., Oury, F., & Karsenty, G. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-387829-8.00005-6 · Cited by 1

Role of Postabsorptive Endocrine Factors on Human Feeding and Regulation of Body Adiposity

Teff, K. L., & KAPADIA, C. R. (2008) · CRC Press eBooks · doi:10.1201/9781420047844.ch12 · Cited by 1

Critically Discuss the Revival of Leptin for Obesity Therapy

Lo, C.-F. (2018) · Psychology · doi:10.4236/psych.2018.92014 · Cited by 1

Motivation

Bear, M. F., Connors, B. W., & Paradiso, M. A. (2018) · Springer eBooks · doi:10.1007/978-3-662-57263-4_16 · Cited by 1

Leptin-Melanocortin Pathway and childhood obesity

Lakshmi, S., & Ganesan, N. (2016) · Journal of Pediatric Biochemistry · doi:10.1055/s-0036-1586394 · Cited by 1

Monogenic Obesity

Meyre, D., & Froguel, P. (2010) · Springer eBooks · doi:10.1007/978-1-60327-874-4_3 · Cited by 1

A clinical and genetic study of childhood and adolescent obesity

Gammal, M. E., Mazen, I., Kotoury, A. E., Amr, K. M., Abdel‐Hamid, M. S., Kholoussi, N. M., Anwar, G. M., Ahmed, G. H., & Tantawy, S. (2012) · Middle East Journal of Medical Genetics · doi:10.1097/01.mxe.0000407741.35881.c2 · Cited by 1

Disorders of the Body Mass

Donohoue, P. A., & Ali, O. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00094-x · Cited by 1

Frühkindlicher BMI-Verlauf bei monogener Adipositas

Kohlsdorf, K., Nunziata, A., Funcke, J., Brandt, S., von Schnurbein, J., Vollbach, H., Lennerz, B. S., Fritsch, M., Greber‐Platzer, S., Fröhlich-Reiterer, E. E., et al. (2017) · Medizinische Genetik · doi:10.1007/s11825-017-0167-x · Cited by 1

Mutations in IRS4 are associated with central hypothyroidism

Heinen, C. A., de Vries, E. M., Alders, M. M., Bikker, H., Zwaveling‐Soonawala, N., van den Akker, E., Bakker, E., Hoorweg-Nijman, G., Roelfsema, F., Hennekam, R. C. M., et al. (2019) · Yearbook of pediatric endocrinology · doi:10.1530/ey.16.3.10 · Cited by 1

Angeborene Adipositasformen und Therapien

Beghini, M., & Scherer, T. (2021) · Journal für Klinische Endokrinologie und Stoffwechsel · doi:10.1007/s41969-021-00144-x · Cited by 1

Subcutaneous administration of adipose-tropic gene therapy for congenital leptin deficiencyPreprint

Cao, L., Huang, W., Xiao, M., & Zou, X. (2025) · Research Square · doi:10.21203/rs.3.rs-7030870/v1 · Cited by 1

Clinical Applications of Leptin

Oral, E. A., & DePaoli, A. M. (2006) · Springer eBooks · doi:10.1007/978-0-387-31416-7_17

Effects of Human Obesity-associated Mutations on Cellular Actions of the Adapter Protein SH2B1.

Doche, M. E. (2013) · Deep Blue (University of Michigan)

Dysregulation of energy metabolism in obesity and its implications for cancer

Battaglia, L., DeStefano, M. A., Hoffman, A. R., & Abali, E. E. (2016) · Journal of Pediatric Biochemistry · doi:10.3233/jpb-2012-00055

The role of hypothalamic neuropeptides and BDNF in obesity and the effects of dietary intervention

Yu, Y. (2009) · Research Online (University of Wollongong)

Genetics of satiety

la Fleur, S. E., & van der Zwaal, E. M. (2013) · Elsevier eBooks · doi:10.1533/9780857098719.2.55

Obesity and Weight Regulation

Wabitsch, M., Fuchs, M., Horenburg, S., Denzer, C., von Puttkamer, J., Moß, A., Lahr, G., & Fischer‐Posovszky, P. (2008) · KARGER eBooks · doi:10.1159/000158563

Understanding adipokine secretion and adipocyte-macrophage cellular interactions, in search for the molecular basis of insulin sensitivity and resistance

Xie, L. (2008) · K-State Research Exchange (Kansas State University)

Development of superactive leptin antagonists and their potential use in research and medicine

Gertler, A. (2012) · Adipobiology · doi:10.14748/adipo.v4.276

A Saudi comprehensive research center for obesity: Experiences from the first 4 years

Alfadda, A. A., & Moustafa, A. S. (2014) · Innovation · doi:10.1080/14479338.2014.11081987

For information on reprint requests of more than 101 and commercial reprints contact

Barbour, L. A., Cobin, R. H., DeGroot, L. J., Glinoer, D., Mandel, S. J., & Edwards, H. A. (2008)

Appetite hormones and hyperemesis gravidarum

Köşüş, A. (2014)

Monogenic Disorders Within the Energy Balance Pathway

Aslan, I. R., Ranadive, S. A., & Vaisse, C. (2010) · Endocrine updates · doi:10.1007/978-1-4419-7034-3_3 · Cited by 1

Obesity alters the immune response to influenza virus infection: a mechanism for immune modulation

Smith, A. G. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/8g6s-9d79

Adipose Tissue Inflammation Is Associated With Immune Dysfunction During Influenza Virus Infection

Cole, K. A. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/nr7q-fc12

The low-density lipoprotein receptor knock-out mouse : a model for the study of energy balance

Ngai, Y. F. (2010) · cIRcle (University of British Columbia) · doi:10.14288/1.0069670

LEPTINA E EXERCÍCIO FÍSICO: MECANISMOS PARA CONTROLE DO PESO CORPORAL

de Souza, W. M. M., Monteiro, E. R., & Salerno, V. ́. (2015) · Dialnet (Universidad de la Rioja)

Génétique des obésités

Poitou, C., Dubern, B., & Clément, K. (2012) · EMC - Endocrinologie - Nutrition · doi:10.1016/s1155-1941(12)56366-3 · Cited by 1

Ocena stężenia leptyny, insuliny, parametrów gospodarki lipidowej i antropometrycznych u młodych osób z pierwotnym nadciśnieniem tętniczym Leptin and insulin concentrations, lipid profile and anthropometric parameters in young adults with primary arterial hypertension

Oryginalna, P. (2008)

Effects of insulin gene dosage on body weight and glucose homeostasis

Mehran, A. E. (2015) · cIRcle (University of British Columbia) · doi:10.14288/1.0167270

Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence

Long, R. K., & Rosenthal, S. M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00153-3

Pharmacologic Treatment of Adolescent Obesity

Wadden, T. A., Crerand, C. E., & Berkowitz, R. I. (2006) · CRC Press eBooks · doi:10.1201/9781420019117.sec9

Development and validation of a cell based model of insulin resistance and investigation into the intracellular molecular defects induced by diabetes and obesity

Schofield, C. J. (2011) · OpenGrey (Institut de l'Information Scientifique et Technique)

Genetic Disorders Involving Leptin and the Leptin Receptor

Farooqi, I. S. (2006) · Springer eBooks · doi:10.1007/978-0-387-31416-7_15

Functional characterization of novel naturally occurring mutations in human melanocortin-3 receptor gene

Yang, F. (2012)

Genetics of early onset of severe obesity in a consanguineous population

Saeed, S. (2015) · doi:10.25560/44185

The metabolic effects of leptin therapy and glucagon suppression therapy in mouse models of diabetes

Neumann, U. H. (2017) · cIRcle (University of British Columbia) · doi:10.14288/1.0348695

Perspectivas dos conhecimentos genéticos para compreensão e tratamento da obesidade Perspective of genetics to understand and treat obesity

Cercato, C. (2006) · DOAJ (DOAJ: Directory of Open Access Journals)

Acute Impaired Glucoregulation and Disrupted Gastrointestinal Hormone Secretion in Adolescents in Response to Caffeine-Containing and Nutritionally Fortified “Energy Shots”

Virtanen, H. (2017) · Libraries and Cultural Resources (University of Calgary) · doi:10.11575/prism/24696

Les obésités monogéniques chez l’enfant

Bui, C., Pigeyre, M., & Meyre, D. (2017) · Obésité · doi:10.1007/s11690-017-0594-5

The Magel2-null mouse as a model of Prader-Willi Syndrome

Mercer, R. E. (2012) · ERA: Education and Research Archive (University of Alberta) · doi:10.7939/r3cm3m

ANCA-associated vasculitis in a case of congenital leptin deficiency

Yaseen, A., Rather, S. P., YUNUS, F., & Hassan, I. (2018) · Indian Journal of Dermatology · doi:10.4103/ijd.ijd_52_18

Ожиріння в дітей: визначення, лікування, профілактика. Клінічні практичні настанови Ендокринологічного Товариства. Частина 2

Зелінська, Н. Б. (2018) · The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy

Associations between menstrual cycle and hormonal contraception with satiety hormones and food intake

Löfberg, I. E. (2020) · Jyväskylä University Digital Archive (University of Jyväskylä)

Leptin Therapy in People with Congenital Leptin Deficiency

Paz-Filho, G., & Licinio, J. (2014) · Springer eBooks · doi:10.1007/978-3-319-09915-6_16

A randomised controlled trial investigating the influences of food form and energy density on appetite, satiation and satiety in healthy adults

Carroll, S. (2014) · Queen Margaret University eTheses Repository

Advances in Pharmacological Treatment of Pediatric Obesity

Goran, M. I. (2016) · CRC Press eBooks · doi:10.1201/9781315370958-31

Genetics of Obesity

Dubern, B., & Tounian, P. (2014) · Humana Press eBooks · doi:10.1007/978-1-62703-770-9_12

A Saudi Comprehensive Research Center for Obesity: Experiences from the First Four Years

Alfadda, A. A., & Moustafa, A. S. (2013) · Innovation · doi:10.5172/impp.2013.3584

Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence

Dong, Q., & Rosenthal, S. M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00088-3

Stone Age Obesity

(2012) · Royal Society of Chemistry eBooks · doi:10.1039/bk9781849733250-00105

Non-dietary Factors and Weight Gain

Poulos, A. (2023) · Springer eBooks · doi:10.1007/978-3-031-39168-2_4

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family

Li, H., Liu, G., Lü, B., & Zhou, X. Y. (2024) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2024.101114

Weißes Fettgewebe

Skurk, T., Blüher, M., & Engeli, S. (2024) · Springer eBooks · doi:10.1007/978-3-662-58895-6_15

Leptin and Des-acyl Ghrelin: Their Role in Physiological Body Weight Regulation and in the Pathological State

Perboni, S., Mantovani, G., & Inui, A. (2007) · Springer eBooks · doi:10.1007/978-88-470-0552-5_25

Anti-obesity Pharmacotherapy for Patients with Genetic Obesity Disorders

Welling, M. S., van Rossum, E. F. C., & van den Akker, E. (2025) · Springer eBooks · doi:10.1007/978-3-032-04095-4_15

Nouvelle technique de détection simultanée des variant ponctuels et des copy number variants dans l’obésité monogénique

Derhourhi, M. (2018) · theses.fr (ABES) · doi:10.70675/2d396fe9z564dz48a1z89b4z746f99df764e

The chemokine CCL5, a key regulator of neuroinflammation and type 2 diabetes associated with diet-induced obesity

Stobbe, K. (2019) · theses.fr (ABES) · doi:10.70675/6fd21bbaz72d5z4f4ez9758z9179924c7ff4

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Kahveci, A., Karauzum, S. U., Manyas, H., Özdemir, B. S., Orbak, Z., Tercan, U., Yıldırım, R., Hatipoğlu, N., Kilci, F., Nursoy, H., et al. (2026) · Pediatric Obesity · doi:10.1111/ijpo.70121

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

Wabitsch, M., Funcke, J., von Schnurbein, J., Denzer, F., Lahr, G., Mazen, I., Gammal, M. E., Denzer, C., Moß, A., Debatin, K., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2263 · Cited by 101

Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy

Paz-Filho, G., Mastronardi, C. A., Delibaşı, T., Wong, M., & Licinio, J. (2010) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302010000800005 · Cited by 104

RF24 | PSUN127 Congenital Leptin Deficiency: Metabolic, Reproductive, and Psychological Impacts of Therapy

Torchen, L. C., Hakamy, B., Sullivan, M., Marsh, E. E., & Neff, L. M. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac150.072 · Cited by 1

Leptin deficiency andleptingene mutations in obese children from Pakistan

Fatima, W., Shahid, A., Imran, M., Manzoor, J., Hasnain, S., Rana, S., & Mahmood, S. (2011) · International Journal of Pediatric Obesity · doi:10.3109/17477166.2011.608431 · Cited by 81

One-year metreleptin in Colombian sisters with congenital leptin deficiency

Yupanqui-Lozno, H., Huertas-Quintero, J. A., Yupanqui-Velazco, M. E., Salinas-Osornio, R. A., Restrepo, C. M., González, A., Nava‐González, E. J., Celis, L. G., Morales, C. N., Hernandez-Escalante, V. M., et al. (2025) · Adipocyte · doi:10.1080/21623945.2025.2508188 · Cited by 7