Research & Literature

Melanocortin-4 receptor signaling is not required for short-term weight loss after sleeve gastrectomy in pediatric patients.

Jelin EB, Daggag H, Speer AL, et al.

International journal of obesity (2005) 2016; (40(3)):550-3 doi:10.1038/ijo.2015.230.

AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY COMPREHENSIVE CLINICAL PRACTICE GUIDELINES FOR MEDICAL CARE OF PATIENTS WITH OBESITY.

Garvey WT, Mechanick JI, Brett EM, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2016; (22 Suppl 3()):1-203 doi:10.4158/EP161365.GL.

Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.

Huvenne H, Dubern B, Clément K, Poitou C

Obesity facts 2016; (9(3)):158-73 doi:10.1159/000445061.

Differential body weight, blood pressure and placental inflammatory responses to normal versus high-fat diet in melanocortin-4 receptor-deficient pregnant rats.

Spradley FT, Palei AC, Granger JP

Journal of hypertension 2016; (34(10)):1998-2007 doi:10.1097/HJH.0000000000001059.

Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.

Vollbach H, Brandt S, Lahr G, et al.

International journal of obesity (2005) 2017; (41(1)):13-22 doi:10.1038/ijo.2016.161.

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature.

Abdullah S, Reginold W, Kiss C, et al.

Case reports in pediatrics 2016; (2016()):6123150 doi:10.1155/2016/6123150.

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents.

Tunç S, Demir K, Tükün FA, et al.

Journal of clinical research in pediatric endocrinology 2017; (9(3)):216-221 doi:10.4274/jcrpe.4225.

European Academy of Paediatric consensus statement on successful transition from paediatric to adult care for adolescents with chronic conditions.

Mazur A, Dembinski L, Schrier L, et al.

Acta paediatrica (Oslo, Norway : 1992) 2017; (106(8)):1354-1357 doi:10.1111/apa.13901.

Outcome Evidence for Structured Pediatric to Adult Health Care Transition Interventions: A Systematic Review.

Gabriel P, McManus M, Rogers K, White P

The Journal of pediatrics 2017; (188()):263-269.e15 doi:10.1016/j.jpeds.2017.05.066.

Genetics of obesity: what genetic association studies have taught us about the biology of obesity and its complications.

Goodarzi MO

The lancet. Diabetes & endocrinology 2018; (6(3)):223-236 doi:10.1016/S2213-8587(17)30200-0.

Young girl with severe early-onset obesity and hyperphagia.

Kleinendorst L, van Haelst MM, van den Akker ELT

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-221067.

Patients with Obesity Caused by Melanocortin-4 Receptor Mutations Can Be Treated with a Glucagon-like Peptide-1 Receptor Agonist.

Iepsen EW, Zhang J, Thomsen HS, et al.

Cell metabolism 2018; (28(1)):23-32.e3 doi:10.1016/j.cmet.2018.05.008.

Monogenic Obesity; Using Drugs to Bypass the Problem.

Coll AP

Cell metabolism 2018; (28(1)):1-2 doi:10.1016/j.cmet.2018.06.015.

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.

Drabkin M, Birk OS, Birk R

BMC medical genetics 2018; (19(1)):135 doi:10.1186/s12881-018-0654-1.

Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment.

Kühnen P, Krude H, Biebermann H

Trends in molecular medicine 2019; (25(2)):136-148 doi:10.1016/j.molmed.2018.12.002.

The melanocortin pathway and control of appetite-progress and therapeutic implications.

Baldini G, Phelan KD

The Journal of endocrinology 2019; (241(1)):R1-R33.

Do physical activity, commuting mode, cardiorespiratory fitness and sedentary behaviours modify the genetic predisposition to higher BMI? Findings from a UK Biobank study.

Celis-Morales CA, Lyall DM, Petermann F, et al.

International journal of obesity (2005) 2019; (43(8)):1526-1538 doi:10.1038/s41366-019-0381-5.

Effect of Sleeve Gastrectomy on Ghrelin, GLP-1, PYY, and GIP Gut Hormones: A Systematic Review and Meta-analysis.

McCarty TR, Jirapinyo P, Thompson CC

Annals of surgery 2020; (272(1)):72-80 doi:10.1097/SLA.0000000000003614.

Measuring the Transition Readiness of Adolescents With Type 1 Diabetes Using the Transition Readiness Assessment Questionnaire.

Chan JT, Soni J, Sahni D, et al.

Clinical diabetes : a publication of the American Diabetes Association 2019; (37(4)):347-352 doi:10.2337/cd18-0027.

Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series.

Brandt S, von Schnurbein J, Lennerz B, et al.

Pediatric obesity 2020; (15(1)):e12577 doi:10.1111/ijpo.12577.

The reliability and validity of a newly developed spina bifida-specific Transition Readiness Assessment Questionnaire: Transition Readiness Assessment Questionnaire-supplement (TRAQ-SB).

Johnson K, Rocque B, Hopson B, et al.

Journal of pediatric rehabilitation medicine 2019; (12(4)):415-422 doi:10.3233/PRM-180599.

Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.

Paisdzior S, Dimitriou IM, Schöpe PC, et al.

International journal of molecular sciences 2020; (21(4)) doi:10.3390/ijms21041224.

Prader-Willi syndrome: endocrine manifestations and management.

Alves C, Franco RR

Archives of endocrinology and metabolism 2020; (64(3)):223-234 doi:10.20945/2359-3997000000248.

Rare genetic forms of obesity: From gene to therapy.

Clément K, Mosbah H, Poitou C

Physiology & behavior 2020; (227()):113134 doi:10.1016/j.physbeh.2020.113134.

Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.

Trier C, Hollensted M, Schnurr TM, et al.

International journal of obesity (2005) 2021; (45(1)):66-76 doi:10.1038/s41366-020-00673-6.

The central melanocortin system and human obesity.

Yang Y, Xu Y

Journal of molecular cell biology 2020; (12(10)):785-797 doi:10.1093/jmcb/mjaa048.

Melanocortin pathways: suppressed and stimulated melanocortin-4 receptor (MC4R).

Hainer V, Aldhoon Hainerová I, Kunešová M, et al.

Physiological research 2020; (69(Suppl 2)):S245-S254 doi:10.33549/physiolres.934512.

GLP-1 Receptor Agonist Treatment in Morbid Obesity and Type 2 Diabetes Due to Pathogenic Homozygous Melanocortin-4 Receptor Mutation: A Case Report.

Iepsen EW, Have CT, Veedfald S, et al.

Cell reports. Medicine 2020; (1(1)):100006 doi:10.1016/j.xcrm.2020.100006.

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.

Arunachalam AK, Maddali M, Aboobacker FN, et al.

Journal of clinical immunology 2021; (41(2)):393-413 doi:10.1007/s10875-020-00923-2.

Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing.

Naumova OY, Rychkov SY, Burenkova OV, et al.

Clinical case reports 2020; (8(12)):2889-2894 doi:10.1002/ccr3.3286.

Genetic risk of obesity as a modifier of associations between neighbourhood environment and body mass index: an observational study of 335 046 UK Biobank participants.

Mason KE, Palla L, Pearce N, et al.

BMJ nutrition, prevention & health 2020; (3(2)):247-255 doi:10.1136/bmjnph-2020-000107.

Setmelanotide: First Approval.

Markham A

Drugs 2021; (81(3)):397-403 doi:10.1007/s40265-021-01470-9.

Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes.

Poitou C, Puder L, Dubern B, et al.

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery 2021; (17(8)):1449-1456 doi:10.1016/j.soard.2021.04.020.

Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.

Caudri D, Nixon GM, Nielsen A, et al.

Journal of paediatrics and child health 2022; (58(2)):248-255 doi:10.1111/jpc.15691.

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with delayed gastric emptying.

Seelig E, Henning E, Keogh JM, et al.

Clinical endocrinology 2022; (96(2)):270-275 doi:10.1111/cen.14615.

Understanding the Patient Experience of Hunger and Improved Quality of Life with Setmelanotide Treatment in POMC and LEPR Deficiencies.

Wabitsch M, Fehnel S, Mallya UG, et al.

Advances in therapy 2022; (39(4)):1772-1783 doi:10.1007/s12325-022-02059-8.

The dynamic genetic architecture of early childhood BMI.

Downie CG, North KE

Nature metabolism 2022; (4(3)):308-309 doi:10.1038/s42255-022-00546-4.

Development of a transition readiness score for adolescents living with perinatally-acquired HIV and transitioning to adult care.

Zanoni BC, Musinguzi N, Archary M, et al.

AIDS and behavior 2022; (26(9)):3131-3138 doi:10.1007/s10461-022-03650-4.

Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders.

Gantz MG, Driscoll DJ, Miller JL, et al.

Obesity (Silver Spring, Md.) 2022; (30(5)):973-981 doi:10.1002/oby.23385.

Multidisciplinary Approach for Adult Patients With Childhood-Onset Chronic Disease Focusing on Promoting Pediatric to Adult Healthcare Transition Interventions: An Updated Systematic Review.

Wakimizu R, Sasaki K, Yoshimoto M, et al.

Frontiers in pediatrics 2022; (10()):919865 doi:10.3389/fped.2022.919865.

Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.

Nalbantoğlu Ö, Hazan F, Acar S, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(8)):1041-1050 doi:10.1515/jpem-2022-0027.

The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.

Hinney A, Körner A, Fischer-Posovszky P

Nature reviews. Endocrinology 2022; (18(10)):623-637 doi:10.1038/s41574-022-00716-0.

Setmelanotide: A Novel Targeted Treatment for Monogenic Obesity.

Pressley H, Cornelio CK, Adams EN

The Journal of pharmacy technology : jPT : official publication of the Association of Pharmacy Technicians 2022; (38(6)):368-373 doi:10.1177/87551225221116010.

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.

Forsythe E, Haws RM, Argente J, et al.

Orphanet journal of rare diseases 2023; (18(1)):12 doi:10.1186/s13023-022-02602-4.

Setmelanotide: a promising advancement for pediatric patients with rare forms of genetic obesity.

Trapp CM, Censani M

Current opinion in endocrinology, diabetes, and obesity 2023; (30(2)):136-140 doi:10.1097/MED.0000000000000798.

[Obesity in infancy: new precision treatment].

Ruiz I, Bouthors T, Borloz S, et al.

Revue medicale suisse 2023; (19(815)):374-379 doi:10.53738/REVMED.2023.19.815.374.

Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.

Folon L, Baron M, Toussaint B, et al.

The lancet. Diabetes & endocrinology 2023; (11(3)):182-190 doi:10.1016/S2213-8587(22)00392-8.

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP, Sleiman PM, Mc Donald J, et al.

Expert review of endocrinology & metabolism 2023; (18(2)):209-219 doi:10.1080/17446651.2023.2179985.

The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.

Welling MS, Kleinendorst L, van Haelst MM, van den Akker ELT

Obesity facts 2023; (16(5)):514-518 doi:10.1159/000531529.

Optimizing the Transition and Transfer of Care in Pediatric Inflammatory Bowel Disease.

Fishman LN, Ding J

Gastroenterology clinics of North America 2023; (52(3)):629-644 doi:10.1016/j.gtc.2023.05.004.

Weight stigma and fat phobia in Poland - attitudes towards people living with obesity and the level of knowledge about obesity among the social media internet respondents and medical professionals.

Świder K, Baska A, Babicki M, et al.

Frontiers in nutrition 2023; (10()):1287783 doi:10.3389/fnut.2023.1287783.

Beneficial Effects of Setmelanotide in a 5-Year-Old Boy With POMC Deficiency and on His Caregivers.

Dubern B, Lourdelle A, Clément K

JCEM case reports 2023; (1(3)):luad041 doi:10.1210/jcemcr/luad041.

Rare genetic forms of obesity in childhood and adolescence: A narrative review of the main treatment options with a focus on innovative pharmacological therapies.

Mainieri F, La Bella S, Rinaldi M, Chiarelli F

European journal of pediatrics 2024; (183(4)):1499-1508 doi:10.1007/s00431-024-05427-4.

Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.

Kalinderi K, Goula V, Sapountzi E, et al.

Children (Basel, Switzerland) 2024; (11(2)) doi:10.3390/children11020153.

MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.

Rodríguez Rondón AV, Welling MS, van den Akker ELT, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(10)):2452-2466 doi:10.1210/clinem/dgae210.

The Tip of the Iceberg: Genotype of Puerto Rican Pediatric Obesity.

Melendez-Montañez JM, De Jesus-Rojas W

Genes 2024; (15(4)) doi:10.3390/genes15040394.

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E, Thevenard-Berger A, Meyre D

Obesity reviews : an official journal of the International Association for the Study of Obesity 2024; (25(10)):e13797 doi:10.1111/obr.13797.

Clinical and molecular characterisation of children with monogenic obesity: a case series.

George A, Navi S, Nanda P, et al.

Pediatric endocrinology, diabetes, and metabolism 2024; (30(2)):104-109 doi:10.5114/pedm.2024.140934.

Single nucleotide polymorphisms (SNPs) that are associated with obesity and type 2 diabetes among Asians: a systematic review and meta-analysis.

Yanasegaran K, Ng JYE, Chua EW, et al.

Scientific reports 2024; (14(1)):20062 doi:10.1038/s41598-024-70674-2.

CRTC1 in Mc4r-Expressing Cells Is Required for Peripheral Metabolism and Systemic Energy Homeostasis.

Miyamori H, Yokokawa T, Miyakita M, et al.

Diabetes 2024; (73(12)):1976-1989 doi:10.2337/db24-0014.

Setmelanotide: A Melanocortin-4 Receptor Agonist for the Treatment of Severe Obesity Due to Hypothalamic Dysfunction.

Qamar S, Mallik R, Makaronidis J

TouchREVIEWS in endocrinology 2024; (20(2)):62-71 doi:10.17925/EE.2024.20.2.9.

Melanocortin 4 receptor mutation in obesity.

Sridhar GR, Gumpeny L

World journal of experimental medicine 2024; (14(4)):99239 doi:10.5493/wjem.v14.i4.99239.

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Al-Hedaithy A, Alghamdi F, Almomen M, et al.

Scientific reports 2025; (15(1)):231 doi:10.1038/s41598-024-81744-w.

Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome.

Haqq AM, Poitou C, Chung WK, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(10)):e3271-e3282 doi:10.1210/clinem/dgaf079.

Knowledge, Attitude, and Belief of Healthcare Professionals Toward Obesity Stigmatization.

Lang H, Zhang X, Yan N, et al.

Journal of multidisciplinary healthcare 2025; (18()):1935-1946 doi:10.2147/JMDH.S499828.

A new homozygous pathogenic LEPR variant causing severe, early onset obesity in a Senegalese child.

Deswarte V, Lebreton L, Barat P, et al.

Obesity research & clinical practice 2025; (19(3)):279-282 doi:10.1016/j.orcp.2025.04.007.

Exploring the interplay of genetic variants and environmental factors in childhood obesity: A systematic review and meta-analysis.

Zhu H, Yi X, He M, et al.

Metabolism: clinical and experimental 2025; (170()):156303 doi:10.1016/j.metabol.2025.156303.

Genetic Insights into Severe Obesity: A Case Study of MC4R Variant Identification and Clinical Implications.

Imangaliyeva A, Sikhayeva N, Bolatov A, et al.

Genes 2025; (16(5)) doi:10.3390/genes16050508.

The quantity, quality and findings of network meta-analyses evaluating the effectiveness of GLP-1 RAs for weight loss: a scoping review.

Nunns M, Febrey S, Buckland J, et al.

Health technology assessment (Winchester, England) 2025; 1-73 doi:10.3310/SKHT8119.

Weight Stigma in the Metabolic Bariatric Surgery Context: Current State of the Literature, Conceptual Model, and Looking Forward.

McGarrity LA, Farnsworth HR

Current obesity reports 2025; (14(1)):59 doi:10.1007/s13679-025-00651-x.

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome.

Kuk M, Richards J, Ross RA

Frontiers in endocrinology 2025; (16()):1646663 doi:10.3389/fendo.2025.1646663.

Is GLP-1 receptor agonist therapy safe for patients with intraductal papillary mucinous neoplasm?

Lagger M, Irmanesh P, Frossard JL, et al.

Swiss medical weekly 2025; (155()):4850 doi:10.57187/s.4850.

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N, Poitou C, Georget M, et al.

Obesity (Silver Spring, Md.) 2026; (34(2)):499-511 doi:10.1002/oby.70107.

Treatment Approaches for Obesity in Children With Heterozygous MC4R Variants.

Salama M, Saba L, Valdez L, et al.

Clinical obesity 2026; (16(1)):e70069 doi:10.1111/cob.70069.

Benign form of monogenic obesity conferred by the melanocortin 4 receptor.

Hinney A, Peters T, Rajcsanyi LS

Cell metabolism 2026; (38(1)):12-13 doi:10.1016/j.cmet.2025.12.006.

The personal utility of genetic testing in children with epilepsy.

Gupta S, Leduc-Pessah H, Barrowman N, et al.

Journal of genetic counseling 2026; (35(1)):e70176 doi:10.1002/jgc4.70176.