Spontaneous ovarian hyperstimulation in a nonpregnant woman with PCOS: a rare case highlighting FMN2 missense mutation and androgen receptor gene deletion
This is the first report identifying FMN2 and AR gene variants in a patient with sOHSS and PCOS, suggesting that noncanonical rare mutations may underlie atypical phenotypes and contribute to ovarian dysfunction in the absence of exogenous stimulation.
Authors
- Yukiyo Matsuyama
- Toshifumi Takahashi (ORCID: https://orcid.org/0000-0003-0955-4248)
- Kuniaki Ota (ORCID: https://orcid.org/0000-0003-3984-975X)
- Yumiko Morimoto
- Yoichi Mizukami (ORCID: https://orcid.org/0000-0002-3290-0754)
- Koichiro Shimoya (ORCID: https://orcid.org/0000-0002-1623-2020)
- Keishiro Isayama (ORCID: https://orcid.org/0000-0002-5965-5920)
- Kenji Watanabe (ORCID: https://orcid.org/0000-0002-0301-8906)
- Yoshiaki Ota (ORCID: https://orcid.org/0000-0003-4443-8365)
- K. Tsuji
- Kenji Kanenishi (ORCID: https://orcid.org/0009-0003-0076-0501)
- Takehiko Matsuyama
- Emiko Nitta
Institutions
- Fukushima Medical University (JP)
- Yamaguchi University (JP)
- Kawasaki Medical School (JP)
- Koujin Hospital (JP)
- Kagawa University Hospital (JP)
Publication Details
- Journal
- Journal of Ovarian Research
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1186/s13048-025-01863-4
- Primary Topic
- Ovarian function and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kawasaki Medical School