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Two reviewers independently conducted a systematic review of MEDLINE, Embase, and Web of Science Core Collection databases from inception to January 2022 to identify studies that described symptoms of patients carrying pathogenic mutations in at least one of eight monogenic obesity genes (<jats:italic>ADCY3<\/jats:italic>, <jats:italic>LEP<\/jats:italic>, <jats:italic>LEPR<\/jats:italic>, <jats:italic>MC3R<\/jats:italic>, <jats:italic>MC4R<\/jats:italic>, <jats:italic>MRAP2<\/jats:italic>, <jats:italic>PCSK1<\/jats:italic>, and <jats:italic>POMC<\/jats:italic>). Of 5207 identified references, 269 were deemed eligible after title and abstract screening, full\u2010text reading, and risk of bias and quality assessment. Data extraction included mutation spectrum and mode of inheritance, clinical presentation (e.g., anthropometry, energy intake and eating behaviors, digestive function, puberty and fertility, cognitive features, infectious diseases, morphological characteristics, chronic respiratory disease, and cardiovascular disease), biological characteristics (metabolic profile, endocrinology, hematology), radiological features, and treatments. The review provides an exhaustive description of mandatory, non\u2010mandatory, and unique symptoms in heterozygous and homozygous carriers of mutation in eight monogenic obesity genes. This information is critical to help clinicians to orient genetic testing in subsets of patients with suspected monogenic obesity and provide actionable treatments (e.g., recombinant leptin and MC4R agonist).<\/jats:p>","DOI":"10.1111\/obr.13797","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T05:56:15Z","timestamp":1719986175000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Medical semiology of patients with monogenic obesity: A systematic review"],"prefix":"10.1111","volume":"25","author":[{"given":"Emeline","family":"Renard","sequence":"first","affiliation":[{"name":"INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy University of Lorraine  Nancy France"},{"name":"Department of Pediatrics University Hospital of Nancy  Nancy 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