Updated: 2/23/2018

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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