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Updated: Jul 5, 2026
08:20
A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
Association between gynecomastia and aromatase (CYP19) polymorphisms
Izabella Czajka-Oraniec1, Wojciech Zgliczynski, Alina Kurylowicz
1Department of Endocrinology, Medical Center for Postgraduate Education, Bielanski Hospital, 80 Ceglowska Street, 01-809 Warsaw, Poland. iczajka@cmkp.edu.pl
European Journal of Endocrinology
|April 23, 2008
Summary
Genetic variations in the aromatase cytochrome P45019 (CYP19) gene, specifically the exon 10 T allele, are linked to an increased risk of gynecomastia. Further research is needed to confirm these findings in larger populations.
Area of Science:
- Endocrinology
- Genetics
Background:
- Aromatase cytochrome P45019 (CYP19) is crucial for estrogen biosynthesis.
- Polymorphisms in the CYP19 gene are associated with estrogen-dependent diseases.
- Increased estrogen stimulation in men can lead to gynecomastia.
Purpose of the Study:
- To investigate the association between CYP19 gene polymorphisms and gynecomastia.
- To examine intron 4 (TTTA)n repeat, TCT deletion/insertion, and exon 10 (3'-UTR) C/T polymorphisms of CYP19 in relation to gynecomastia.
Main Methods:
- A genetic association study was conducted with 100 gynecomastia patients and 99 healthy controls.
- Microsatellite (TTTA)n and insertion/deletion polymorphisms were analyzed using capillary electrophoresis.
- The 3'-UTR C/T polymorphism was analyzed using the TaqMan assay.
Main Results:
- A significantly increased risk of gynecomastia was observed in individuals carrying the CYP19 exon 10 T allele, associated with high aromatase activity.
- The TT genotype frequency was significantly higher in patients (40.6%) compared to controls (26.3%).
- Strong linkage disequilibrium was found between the studied polymorphic loci, particularly the 3'-UTR T allele and longer intron 4 alleles (TTTA)11, though alleles with >9 TTTA repeats showed no significant correlation with gynecomastia.
Conclusions:
- CYP19 gene polymorphisms may contribute to the incidence of gynecomastia.
- Further studies with larger cohorts are required to validate these findings and confirm the association.
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