Clinical manifestations and evaluation of spontaneous primary ovarian insufficiency (premature ovarian failure)
- Robert L Barbieri, MD
Robert L Barbieri, MD
- Editor-in-Chief — Obstetrics, Gynecology and Women's Health
- Section Editor — General Gynecology and Female Reproductive Endocrinology
- Kate Macy Ladd Professor of Obstetrics, Gynecology and Reproductive Biology
- Harvard Medical School
Primary ovarian insufficiency (POI) is defined as the development of hypergonadotropic hypogonadism before the age of 40 years . The presenting symptoms are similar to those of menopause. The condition was previously referred to as "premature menopause" and "premature ovarian failure." The age-specific incidence of spontaneous POI is approximately 1 in 250 by age 35 years and 1 in 100 by age 40 years . In its fully developed form, it is associated with oligomenorrhea or amenorrhea, symptoms of estrogen deficiency, and gonadotropin levels in the menopausal range before age 40 years.
The clinical manifestations and evaluation of women with spontaneous POI (focusing on women with a normal karyotype) will be reviewed here. The pathogenesis, causes, and management of spontaneous POI and an overview of autoimmune ovarian insufficiency are discussed separately. Turner syndrome is also reviewed separately. (See "Pathogenesis and causes of spontaneous primary ovarian insufficiency (premature ovarian failure)" and "Management of spontaneous primary ovarian insufficiency (premature ovarian failure)" and "Clinical features and diagnosis of autoimmune primary ovarian insufficiency (premature ovarian failure)" and "Clinical manifestations and diagnosis of Turner syndrome".)
Natural menopause is defined as the permanent cessation of menstrual periods, determined retrospectively after a woman has experienced 12 months of amenorrhea without any other obvious pathological or physiological cause. It occurs at a median age of 51.4 years in normal women. Menopause is a reflection of complete, or near complete, ovarian follicular depletion, with resulting hypoestrogenemia and high follicle-stimulating hormone (FSH) concentrations. Menopause before age 40 years is considered to be abnormal and is referred to as primary ovarian insufficiency (POI). (See "Clinical manifestations and diagnosis of menopause".)
The terms "premature menopause" and "premature ovarian failure" were used in the past for POI, but both are inaccurate because many patients with spontaneous POI intermittently produce estrogen and ovulate, a few experience intermittent return of regular menses, and in 5 to 10 percent of cases, women conceive and have a normal pregnancy . This can occur many years after the diagnosis .
POI is a spectrum disorder and is a continuum of impaired ovarian function. We define occult POI as impaired ovarian responsiveness to exogenous or endogenous gonadotropin stimulation despite the presence of regular and predictable ovulatory menstrual cycles. Overt POI refers to the presence of irregular menses, elevated serum gonadotropins, and reduced fertility.To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- CLINICAL FEATURES
- Initial presentation
- Physical features
- Biochemical features
- Transvaginal ultrasound
- Importance of early diagnosis
- EVALUATION TO EXCLUDE OTHER DISORDERS
- ADDITIONAL EVALUATION ONCE DIAGNOSIS IS MADE
- Clues to underlying etiology
- Test for adrenal autoantibodies
- Other autoimmune evaluation
- Test for FMR1 premutation
- Assess bone mineral density with DXA
- FOLLOW-UP AFTER DIAGNOSIS
- SOCIETY GUIDELINE LINKS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS