Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
Authors' conclusion
We have found evidence that functionally damaging variants in MC3R are overrepresented in individuals with CDGP but are not a common cause of this phenotype.
Study context
- Population
- Adolescents with constitutional delay of growth and puberty (CDGP) and patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) vs population-based controls; additionally UK Biobank women with self-reported delayed vs normal age at menarche
- Participants
- 362 / 657 / 5,774
- Comparison
- Frequency of MC3R loss-of-function variants in CDGP or nIHH vs population-based controls
- CDGPn = 362
- nIHHn = 657
- Controlsn = 5,774reference
- Outcome
- Frequency of deleterious MC3R variants
Methodological detailsfunctional characterisation of variants, population-based controls
- Functional characterisation of variants
- Population-based controls
Main finding
As reported in the abstract
MC3R loss-of-function variants
Odds ratio
4.17
P = 0.001
CDGP
Odds ratio
1.15
P = 0.779
nIHH · no strong evidence of overrepresentation
Observational data: associations, not effects.
Further findings
| Outcome | OR | P value |
|---|---|---|
| Predicted deleterious MC3R variants, UK Biobank women: delayed (aged ≥16 years) vs normal age at menarchen = 246 328 women | 1.66 | P = 3.90E-07 |
Original publication
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty. J Clin Endocrinol Metab. Published 20 June 2023. doi:10.
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