Primary Ovarian Insufficiency
Basics
Basics
Basics
Description
Description
Description
- 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).
Epidemiology
Epidemiology
Epidemiology
Incidence
- 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.
Prevalence
POI affects approximately 1% of the population in the United States (3).
Etiology and Pathophysiology
Etiology and Pathophysiology
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)
Genetics
Turner syndrome, fragile X/FMR1 gene premutations, microdeletions on X chromosome, FOXL2 mutation, galactosemia (GALT mutation)
Risk Factors
Risk Factors
Risk Factors
- Autoimmune
- 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
- Infectious
- Mumps oophoritis, HIV, cytomegalovirus (CMV)
- Iatrogenic
- Chemotherapy and radiation
- Pelvic surgery (2)
General Prevention
General Prevention
General Prevention
No effective prevention strategies have been identified; however, early diagnosis is key to prevent sequelae.
Commonly Associated Conditions
Commonly Associated Conditions
Commonly Associated Conditions
Commonly, vasomotor symptoms, atrophic vaginitis, infertility, mood disturbances, accelerated cardiovascular aging, osteoporosis, and other autoimmune disorders
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