ArticleObesity (Silver Spring, Md.)2025
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.
Article in Obesity (Silver Spring, Md.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.Current issues in molecular biology · 2026Review
- Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.Molecular and cellular pediatrics · 2026Article
- Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.Obesity (Silver Spring, Md.) · 2025Article
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Authors and funding
11 authors.
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Abstract
objectiveThe objective of this study was to investigate head circumference (HC) in patients with melanocortin 4 receptor (MC4R) deficiency, the most common cause of monogenetic obesity.
methodsPatients with (likely) pathogenic MC4R variants were included. HC, height, and weight were measured, and BMI and standard deviation score (SDS) were calculated. HC SDS was compared to the Dutch reference population. Children were matched 1:1 to a control group with common obesity.
resultsChildren with MC4R deficiency (n = 63, mean age, 10.32 years) had significantly larger HC (mean, +1.73 SDS) compared to the reference population (0 SDS; p < 0.001) and controls (+1.22 SDS; p = 0.009). In adults (n = 13), HC (median, + 0.86 SDS) did not differ from the reference population (0 SDS; p = 0.152). Macrocephaly (HC ≥ 2 SDS) was present in 43%, 25%, and 23% of pediatric patients with MC4R deficiency, controls, and adult patients, respectively. Children with MC4R deficiency were taller than controls (+1.00 SDS vs. +0.42 SDS; p = 0.016), with similar BMI (+3.99 SDS vs. +3.75 SDS; p = 0.157). HC SDS was associated with height SDS (R
conclusionsMacrocephaly is a common feature of patients with MC4R deficiency. We recommend measuring HC in patients suspected for genetic obesity, as it can be a clue for MC4R deficiency.
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