Primary Ovarian Insufficiency

Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene.

Also Known As:

FMR1-Related Primary Ovarian Insufficiency; Fragile X Premature Ovarian Failure; Fragile X-Associated Primary Ovarian Insufficiency; Hypergonadotropic Ovarian Failure, X-Linked; Premature Ovarian Failure; Premature Ovarian Failure 1; Premature Ovarian Failure, X-Linked; Primary Ovarian Insufficiency, Fragile X-Associated; X-Linked Hypergonadotropic Ovarian Failure; FMR1 Related Primary Ovarian Insufficiency; Fragile X Associated Primary Ovarian Insufficiency; Gonadotropin Resistant Ovary Syndrome; Hypergonadotropic Ovarian Failure, X Linked; Ovarian Insufficiency, Primary; Premature Ovarian Failure, X Linked; Primary Ovarian Insufficiency, Fragile X Associated; X Linked Hypergonadotropic Ovarian Failure; Gonadotropin-Resistant Ovary Syndrome; Ovarian Failure, Premature; Resistant Ovary Syndrome

Urogenital Diseases: 129
- Genital Diseases: 114
  - Female Genital Diseases: 400
    - Adnexal Diseases: 60
      - Ovarian Diseases: 676
        Primary Ovarian Insufficiency: 1615
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Female Genital Diseases: 400
      - Adnexal Diseases: 60
        Ovarian Diseases: 676
        Primary Ovarian Insufficiency: 1615
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Ovarian Diseases: 676
    - Primary Ovarian Insufficiency: 1615

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