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GENATLAS PHENOTYPE
last update : 02/02/08
Symbol OHSS
Location 2p21-p16
Name ovarian hyperstimulation syndrome
Main clinical features
  • vary from abdominal distention and discomfort to potentially life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration . chorionic gonadotropin (hCG) promiscuously stimulates the FSHR during the first trimester of pregnancy
  • Genetic determination not applicable
    Function/system disorder
    Type disease
    Remark(s) mutations only in the transmembrane helices of the serpentine region of the FSHR, outside the hormone binding domain