FXPOI

GPTKB entity

Statements (35)
Predicate Object
gptkbp:instanceOf medical condition
gptkbp:abbreviation Fragile X-associated primary ovarian insufficiency
gptkbp:affects female
ovaries
gptkbp:category genetic disorder
reproductive disorder
gptkbp:causedBy FMR1 gene premutation
FMR1 gene CGG repeat expansion
gptkbp:diagnosedBy genetic testing
hormone level tests
gptkbp:firstDescribed 1990s
gptkbp:fullName Fragile X-associated primary ovarian insufficiency
https://www.w3.org/2000/01/rdf-schema#label FXPOI
gptkbp:ICD-10_code E28.319
gptkbp:MeSH_ID D000328
gptkbp:OMIM 300623
gptkbp:prevalence affects about 20% of women with FMR1 premutation
gptkbp:relatedTo gptkb:Fragile_X_syndrome
Fragile X-associated tremor/ataxia syndrome
gptkbp:riskFactor female carriers of FMR1 premutation
gptkbp:symptom infertility
night sweats
hot flashes
amenorrhea
oligomenorrhea
irregular menstrual cycles
decreased estrogen levels
early menopause
osteoporosis risk
vasomotor symptoms
gptkbp:treatment hormone replacement therapy
fertility counseling
gptkbp:bfsParent gptkb:CGG
gptkb:fragile_X-associated_primary_ovarian_insufficiency
gptkbp:bfsLayer 8