A national multicenter study of leptin and leptin receptor deficiency and systematic review

Basit Öğe Kaydı
dc.authorid0000-0003-3135-9617en_US
dc.authorid0000-0001-9386-5879en_US
dc.authorid0000-0001-7037-2713en_US
dc.authorid0000-0003-3974-2872en_US
dc.authorid0000-0002-8071-426Xen_US
dc.authorid0000-0003-1645-5416en_US
dc.authorid0000-0002-5323-2257en_US
dc.contributor.authorBesci, Özge
dc.contributor.authorFırat, Sevde Nur
dc.contributor.authorÖzen, Samim
dc.contributor.authorÇetinkaya, Semra
dc.contributor.authorAkın, Leyla
dc.contributor.authorPekkolay, Zafer
dc.contributor.authorKör, Yılmaz
dc.date.accessioned2024-02-26T10:27:30Z
dc.date.available2024-02-26T10:27:30Z
dc.date.issued2023en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, İç Hastalıklar Ana Bilim Dalıen_US
dc.description.abstractContext: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. Objective: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. Methods: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported. A systematic literature review was conducted in July 2022. Forty-two of 47 studies on LEP/LEPR were selected. Results: Of 10 new cases, 2 novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40 + 5G > C). Eleven patients with LEP deficiency received metreleptin, 4 of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense variants (35%) in LEPR. Patients with LEP deficiency were diagnosed at a younger age [3 (9) vs 7 (13) years, P = .02] and had a higher median body mass index (BMI) SD score [3.1 (2) vs 2.8 (1) kg/m2, P = 0.02], which was more closely associated with frameshift variants (P = .02). Patients with LEP deficiency were more likely to have hyperinsulinemia (P = .02). Conclusion: Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefitted from long-term metreleptin, with 1 losing efficacy due to neutralizing antibodies.en_US
dc.identifier.citationBesci, Ö., Fırat, S. N., Özen, S., Çetinkaya, S., Akın, L., Kör, Y. ve diğerleri. (2023). A national multicenter study of leptin and leptin receptor deficiency and systematic review. Journal of Clinical Endocrinology and Metabolism, 108(9), 2371-2388.en_US
dc.identifier.doi10.1210/clinem/dgad099
dc.identifier.endpage2388en_US
dc.identifier.issn0021-972X
dc.identifier.issue9en_US
dc.identifier.pmid36825860
dc.identifier.scopus2-s2.0-85168315836
dc.identifier.scopusqualityQ1
dc.identifier.startpage2371en_US
dc.identifier.urihttps://academic.oup.com/jcem/article/108/9/2371/7056681?login=true
dc.identifier.urihttps://hdl.handle.net/11468/13382
dc.identifier.volume108en_US
dc.identifier.wosWOS:001003019700001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorPekkolay, Zafer
dc.language.isoenen_US
dc.publisherEndocrine Societyen_US
dc.relation.ispartofJournal of Clinical Endocrinology and Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectLEPen_US
dc.subjectLEPRen_US
dc.subjectLeptinen_US
dc.subjectLeptin receptoren_US
dc.subjectLeptin-melanocortin pathwayen_US
dc.titleA national multicenter study of leptin and leptin receptor deficiency and systematic reviewen_US
dc.titleA national multicenter study of leptin and leptin receptor deficiency and systematic review
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.pdf
Boyut:
660.94 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Makale Dosyası
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Dahili Tıp Bilimleri Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu