Ovarian failure

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Overview

Ovarian failure is heterogeneous, both in cause and in phenotype. Women whose menses cease prior to age 40 years and have menopausal FSH levels are traditionally considered by clinicians to have the diagnosis of "premature ovarian failure" (POF). In fact, however, the ovarian function in this disorder is in reality a continuum of impairment in ovarian responsiveness. For this reason the term "primary ovarian insufficiency" (POI) has been suggested to be more accurate. It would be yet more desirable to classify this disorder on the basis of aberrant embryonic differentiation rather than the state of ovarian function. Genes that exert known hormonal effects (FSH, FSHR, LH, LHR, CYP17, CYP19) primarily affect follicle function, as do BMP15, GDF9, and GPR3. These genes mutations have occasionally been found in humans, but none are common. Still other genes expressed during oogenesis appear more likely to be characterized by lack of germ cell formation. These include DNA binding proteins and transcription factors like NOBOX and LHX8, and RNA binding proteins like NANOS. Plausible causative mutations have been identified in a few women (NOBOX, GDF9, LDX8), but even then only 1-2% of cases show a perturbation. Thus, considerable heterogeneity-phenotypic as well as etiologic-exists in ovarian failure, irrespective of whether follicles do or do not develop. Analysis of other genes is necessary, including many likely to show novel mechanisms of action.

Symptoms

Irregular or skipped periods, which might be present for years or develop after a pregnancy or after stopping birth control pills.

Difficulty getting pregnant.

Hot flashes.

Night sweats.

Vaginal dryness.

Dry eyes.

Irritability or difficulty concentrating.

Decreased sexual desire.

Causes

Genetic disorders such as Fragile X syndrome and Turner syndrome.

A low number of follicles.

Autoimmune diseases, including thyroiditis and Addison disease.

Chemotherapy or radiation therapy.

Metabolic disorders.

Toxins, such as cigarette smoke, chemicals, and pesticides.

Risk factors

Genetic disorders such as Fragile X syndrome and Turner syndrome.

A low number of follicles.

Autoimmune diseases, including thyroiditis and Addison disease.

Chemotherapy or radiation therapy.

Metabolic disorders.

Toxins, such as cigarette smoke, chemicals, and pesticides.

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Complications

Infertility. Inability to get pregnant can be a complication of primary ovarian insufficiency. ...

Osteoporosis. The hormone estrogen helps maintain strong bones. ...

Depression or anxiety. ...

Heart disease.

Prevention

Treatment for primary ovarian insufficiency usually focuses on the problems that arise from estrogen deficiency. Your health care provider might recommend: Estrogen therapy. Estrogen therapy can help prevent osteoporosis as well as relieve hot flashes and other symptoms of estrogen deficiency.