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Article

Genotype-Phenotype Spectrum of Non-Syndromic Monogenic Obesity in a National Paediatric Cohort.

Pediatric obesity - 1 Jun 2026

Kahveci Ahmet, Karauzum Selin Uzun, Manyas Hayrullah, Ozdemir Behiye Sarikaya, Orbak Zerrin, Tercan Ummahan, Yildirim Ruken, Hatipoglu Nihal, Kilci Fatih, Nursoy Hatice, Ozalkak Servan, Kolbasi Baris, Cetinkaya Semra, Ozdemir Hazal Canbaz, Parlak Mesut, Kokenli Filiz Tutunculer, Camtosun Emine, Dibeklioglu Saime Ergen, Buyukyilmaz Gonul, Bulus Ayse Derya, Balki Hanife Gul, Ozden Ayse, Gonc E Nazli, Ozsu Elif, Demirbilek Huseyin, Yildiz Melek, Ozen Samim, Bereket Abdullah, Haliloglu Belma

Abstract excerpt

OBJECTIVE: Non-syndromic monogenic obesity, caused by defects in the leptin-melanocortin pathway, presents with early-onset severe obesity and hyperphagia, but genotype-phenotype and metabolic correlations across different genetic forms remain unclear. METHODS: In this multicentre retrospective cohort study, individuals with biallelic (likely) pathogenic variants in LEP, LEPR, POMC, PCSK1, MC4R, ADCY3, and...

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Identifiers

PMID: 42210527
DOI: 10.1111/ijpo.70121

Genes

MC4R
LEPR
POMC
LEP
ADCY3
PCSK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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