Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case–control study
Authors' conclusion
Macrocephaly 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.
Study context
- Population
- Patients with (likely) pathogenic MC4R variants (MC4R deficiency, most common cause of monogenetic obesity); children mean age 10.32 years
- Comparison
- MC4R deficiency vs common obesity controls and Dutch reference population
- MC4R deficiency (children)n = 63
- MC4R deficiency (adults)n = 13
- Outcome
- Head circumference (HC) SDS
Methodological details1:1 matched controls with common obesity
- 1:1 matched controls with common obesity
Main finding
As reported in the abstract
HC SDS in children
MC4R deficiency (children)
+1.73
mean · standard deviation score (SDS)
Controls
+1.22
SDS
Reference population
0
SDS
MC4R deficiency (children) vs Reference population: P < 0.001 · MC4R deficiency (children) vs Controls: P = 0.009
Further findings
| Outcome | MC4R deficiency (children) | Controls | MC4R deficiency (adults) | Reference population | P value |
|---|---|---|---|---|---|
| HC SDS in adultsMC4R deficiency (adults) vs Reference population · did not differ | — not stated in the abstract | — not stated in the abstract | median + 0.86 SDS | 0 SDS | P = 0.152 |
| Macrocephaly (HC ≥ 2 SDS) | 43% | 25% | 23% | — not stated in the abstract | |
| Height SDS in childrenMC4R deficiency (children) vs Controls · taller with MC4R deficiency | +1.00 SDS | +0.42 SDS | — not stated in the abstract | — not stated in the abstract | P = 0.016 |
| BMI SDS in childrenMC4R deficiency (children) vs Controls · similar BMI | +3.99 SDS | +3.75 SDS | — not stated in the abstract | — not stated in the abstract | P = 0.157 |
— not stated in the abstract
Associations of head circumference (HC) SDS
- HC SDS vs height SDS, R2 (p < 0.001)
- 0.22
- HC SDS vs HOMA-IR, correlation coefficient (p < 0.05)
- 0.542
Original publication
Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case–control study. Obesity (Silver Spring). Published 15 April 2025. doi:10.
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