FSHR gene mutation

Clinical significance

• defects in FSHR are a cause of
  • ovarian dysgenesis 1
  • ovarian hyperstimulation syndrome
• activating mutations of the FSH receptor:
  • fertile eunuch syndrome

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• follicle-stimulating hormone receptor; FSH-R; follitropin receptor (FSHR, LGR1)