First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

@inproceedings{HugonRodin2017FirstMI,
  title={First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome},
  author={Justine Hugon-Rodin and Charlotte Sonigo and Anne Gompel and Catherine Dod{\'e} and Michael Grynberg and Nadine Binart and Isabelle Beau},
  booktitle={BMC Medical Genetics},
  year={2017}
}
BackgroundSpontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified.Case presentationWe report hereby the case of a non-pregnant women with three episodes of sOHSS. Hormonal evaluation was normal and no pituitary adenoma was detected. However, genetic analysis identified a novel heterozygous FSHR mutation (c.1901 G > A). This R634H mutation is… CONTINUE READING

References

Publications referenced by this paper.
SHOWING 1-10 OF 21 REFERENCES

A case of ovarian torsion in a patient carrier of a FSH receptor gene mutation previously affected by spontaneous ovarian hyperstimulation syndrome

C Di Carlo, F Savoia, A Fabozzi, V Gargano, C. Nappi
  • Gynecol Endocrinol Off J Int Soc Gynecol Endocrinol
  • 2015
VIEW 1 EXCERPT

Consensus statement on prevention and detection of ovarian hyperstimulation syndrome.

  • The Australian & New Zealand journal of obstetrics & gynaecology
  • 2015
VIEW 1 EXCERPT

The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models

ET Siegel, Kim H-G, HK Nishimoto, LC Layman
  • Reprod Sci Thousand Oaks Calif
  • 2013
VIEW 1 EXCERPT