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The Impact of Variants in Genes Associated with Estradiol Synthesis on Hormone Levels and Oocyte Retrieval in Patients Who Underwent Controlled Ovarian Hyperstimulation.

AIMS
To correlate differences in estradiol levels in serum and follicular fluid with genetic variants and to determine if they play a role in the results following assisted reproductive technology (ART).


PATIENTS AND METHODS
A cross-sectional study was developed at the Ideia Fértil Institute of Reproductive Health. Two hundred two female patients were selected and underwent controlled ovarian hyperstimulation cycles. Patients for this study were chosen based on their male partners' infertility. Genotypes of selected variants of CYP19A1, CYP17A1, HSD17, and COMT were compared to the estradiol measurements from follicular fluid and serum, as well as to the number and maturation status of the oocytes retrieved.


RESULTS
Patients with the variant homozygous genotype AA of CYP19A1 (rs10046) showed increased serum concentrations of estradiol when compared to patients with other genotypes (p = 0.005). The same polymorphism effect was not observed in follicular fluid. This CYP19A1 variant did not affect the number of oocytes recovered nor their maturation level.


CONCLUSION
The CYP19A1 variant is associated with an estradiol imbalance in serum. Other pathways, however, may contribute to the formation of the final estradiol metabolite in follicular fluid as well as its impact on the oocyte maturation.