Classification of Congenital Leptin Deficiency
Authors' conclusion
Categorization of leptin variants based on molecular and functional characteristics helps to determine the most adequate approach to treatment of patients with congenital leptin deficiency.
Study context
- Population
- Patients with congenital leptin deficiency due to homozygous leptin gene variants28 distinct homozygous variants
- Participants
- 148 patients
- Comparison
- Subtypes of congenital leptin deficiency: classical hormone deficiency vs biologically inactive hormone vs antagonistic hormone
- Classical hormone deficiencyn = 128reference
- Biologically inactive hormonen = 12
- Antagonistic hormonen = 7
- Unclassifiedn = 1
- Outcome
- Classification of leptin variants into subtypes
Methodological detailssystematic literature research, unpublished data from patients at authors' center, new in vitro analyses
- Systematic literature research
- Unpublished data from patients at authors' center
- New in vitro analyses
Pooled result
As reported in the abstract
- Distinct homozygous leptin variants identified
- 28
Further pooled results
BMI ≥95th percentile (percentage) by subtype
- Biologically inactive leptin: higher percentage of 95th BMI percentile vs classical hormone deficiency
Treatment approach
- Classical hormone deficiency and biologically inactive hormone can be treated with the same starting dose of metreleptin; antagonistic hormone needs a variant-tailored treatment approach
Original publication
Classification of Congenital Leptin Deficiency. J Clin Endocrinol Metab. Published 12 March 2024. doi:10.
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