Primary Ovarian Insufficiency
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- Primary ovarian insufficiency (POI) is used to describe a spectrum of conditions including hypergonadotropic hypogonadism, premature ovarian failure (POF), and ovarian dysgenesis in women <40 years of age.
- POI can be transient, intermittent, or progressive and usually results in eventual premature menopause.
- About 50% of women will have varying degrees of ovulation, 5–10% are able to achieve spontaneous pregnancy (1,2).
- Diagnosis is made by two follicle-stimulating hormone (FSH) levels in the menopausal range at least 1 month apart in the setting of 4 to 6 months of menstrual irregularity (3).
- The age-specific incidence is approximately 1/1,000 by age 30 years, 1/250 by age 35 years, and 1/100 by age 40 years (1).
- Incidence is approximately 10–30% in women with primary amenorrhea and approximately 5–20% in women with secondary amenorrhea.
POI affects approximately 1% of the population in the United States (3).
Etiology and Pathophysiology
Three potential mechanisms (3)
- Congenital low initial primordial follicle count (e.g., familial 46,XX gonadal dysgenesis)
- Inability to recruit primordial follicles (e.g., congenital adrenal hyperplasia [CAH], 17α-hydroxylase deficiency)
- Accelerated follicle depletion (galactosemia, radiation)
Turner syndrome, fragile X/FMR1 gene premutations, microdeletions on X chromosome, FOXL2 mutation, galactosemia (GALT mutation)
- Ovarian insufficiency
- Other possible autoimmune diseases: hypothyroidism, adrenal insufficiency, systemic lupus erythematosus, rheumatoid arthritis, type 1 diabetes
- Autoimmune polyglandular failure
- Enzyme deficiencies
- Cholesterol desmolase deficiency, 17α-hydroxylase deficiency, galactosemia, aromatase deficiency
- Mumps oophoritis, HIV, cytomegalovirus (CMV)
- Chemotherapy and radiation
- Pelvic surgery (2)
No effective prevention strategies have been identified; however, early diagnosis is key to prevent sequelae.
Commonly Associated Conditions
Commonly, vasomotor symptoms, atrophic vaginitis, infertility, mood disturbances, accelerated cardiovascular aging, osteoporosis, and other autoimmune disorders