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Updated: Feb 23 2018

Primary Ovarian Insufficiency


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  • Snapshot
    • A 37-year-old woman reports vaginal dryness and menstrual irregularities. She had an intrauterine device (IUD) placed for 5 years and now wishes to conceive with her husband. While they have only been trying for 4 months, she has not had a regular menstrual period since removing the IUD. She denies hot flashes. On physical exam, she has a normal stature and normal BMI, but has a notably atrophic vagina. Laboratory results reveal low estradiol and high follicle-stimulating hormone, suggestive of primary ovarian insufficiency.
  • Introduction
    • Hypergonadotropic hypogonadism before 40 years of age
      • also known as premature ovarian failure
    • Characterized by
      • loss of oocytes
      • ↓ estrogen production
      • infertility
    • Pathogenesis
      • accelerated follicle depletion
        • normally, follicle depletion is completed around 51 years of age (average age of menopause)
        • rate of follicle depletion may be accelerated by genetic disorders and toxins to the ovary
        • toxins
          • galactose metabolites
          • chemotherapy/radiation therapy
          • viruses (mumps and CMV) causing oophoritis
      • decreased steroid production without oocyte loss
    • Epidemiology
      • 1 in 250 by age 35 years
      • 1 in 100 by age 40 years
    • Associated conditions and risk factors
      • chromosomal defects (e.g., Turner syndrome and fragile X syndrome)
      • galactosemia
      • exposure to radiation
      • autoimmune disease
  • Presentation
    • Symptoms are similar to menopause
      • change in menstruation
        • oligomenorrhea
        • amenorrhea
        • failure to return to normal menstruation after stopping contraceptives or following a pregnancy
      • difficulty conceiving
      • estrogen deficiency
        • hot flashes
        • vaginal dryness
    • Physical exam
      • vaginal atrophy
      • features of Turner syndrome
        • short stature
        • webbed neck
        • squarely shaped chest
  • Evaluation
    • Diagnosis is made in women younger than 40 years of age with irregular menses and high follicle-stimulating hormone (FSH)
    • Labs
      • ↑ FSH and lutenizing hormone (LH)
      • ↓ estradiol
    • Transvaginal ultrasound
      • typical findings
        • enlarged cystic ovaries
      • findings in Turner syndrome
        • streak ovaries
  • Differential
    • Pregnancy
    • Hyperprolactinemia
    • Other cause of female infertility
  • Treatment
    • Estrogen-progestin replacement therapy
      • for prevention of osteoporosis
      • symptomatic control of hot flashes and vaginal dryness
      • prevention of coronary artery disease
      • recommended until after age 50
    • Assisted reproductive technologies
      • in vitro fertilization with donor oocytes or donor embryos
  • Prognosis, Prevention, and Complications
    • Complications
      • ↓ quality of life
      • earlier onset osteoporosis if primary ovarian insufficiency is not identified early
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