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

  title={First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome},
  author={J. Hugon-Rodin and C. Sonigo and A. Gompel and C. Dod{\'e} and M. Grynberg and N. Binart and I. Beau},
  journal={BMC Medical Genetics},
  • J. Hugon-Rodin, C. Sonigo, +4 authors I. Beau
  • Published 2017
  • Biology, Medicine
  • BMC Medical Genetics
  • 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
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