Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile Macromastia
Authors' conclusion
Although estrogen-gene CNVs were not detected, the OR4P4-OR4S2-OR4C6 deletion may represent an under-recognized genomic contributor to idiopathic PG and JM. Prospective studies with tissue-level validation and functional assays are needed to confirm clinical significance and clarify mechanism.
Study context
- Population
- Patients suspected of aromatase excess syndrome with prepubertal gynecomastia (PG) or juvenile macromastia (JM), after exclusion of numerical and structural chromosomal anomalies17 patients
- Participants
- 10 / 7 / 988
- Exposure
- Idiopathic PG and JM cases vs controls without breast overgrowth
- PGn = 10
- JMn = 7
- Controlsn = 988reference
- Outcome
- CNVs in CYP19A1 and other estrogen-related genes
Methodological detailscase–control comparison with array comparative genomic hybridization (aCGH) controls from the same center
- Case–control comparison with aCGH controls from the same center
Main finding
As reported in the abstract
Pathogenic CNVs in CYP19A1 or other estrogen-related genes
- No pathogenic copy number variations (CNVs) observed in CYP19A1 or the other estrogen-related genes
Observational data: associations, not effects.
Further findings
Recurrent 65.2-kb deletion spanning OR4P4-OR4S2-OR4C6 olfactory receptor cluster at 11q11 — PG vs Controls
estimated RR 11-fold higher
| Outcome | Estimated RR |
|---|---|
| Recurrent 65.2-kb deletion spanning OR4P4-OR4S2-OR4C6 olfactory receptor cluster at 11q11JM vs Controls | 16-fold higher |
Original publication
Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile Macromastia. Horm Res Paediatr. Published 21 November 2025. doi:10.
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