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Article

Classification of Congenital Leptin Deficiency.

The Journal of clinical endocrinology and metabolism - 16 Sept 2024

von Schnurbein Julia, Zorn Stefanie, Nunziata Adriana, Brandt Stephanie, Moepps Barbara, Funcke Jan-Bernd, Hussain Khalid, Farooqi I Sadaf, Fischer-Posovszky Pamela, Wabitsch Martin

Abstract excerpt

PURPOSE: Biallelic pathogenic leptin gene variants cause severe early-onset obesity usually associated with low or undetectable circulating leptin levels. Recently, variants have been described resulting in secreted mutant forms of the hormone leptin with either biologically inactive or antagonistic properties. METHODS: We conducted a systematic literature research supplemented by unpublished data from patients...

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Identifiers

PMID: 38470203
DOI: 10.1210/clinem/dgae149
PMCID: PMC11403321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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