gynecology and obstetrics
Primary Ovarian Insufficiency
Diagnosis of Primary Ovarian Insufficiency
Follicle-stimulating hormone (FSH) andestradiollevels Thyroid function tests, fasting glucose, electrolytes, and creatinine Sometimes genetic testing 40 with unexplained infertility, menstrual abnormalities, or symptoms of estrogen deficiency ( Diagnostic references ). A pregnancy test is done, and serum FSH andestradiollevels are measured weekly for 2 to 4 weeks; if FSH levels are high (>20 mIU/mL, but usually>30 mIU/mL) andestradiollevels are low (usually<20 pg/mL), ovarian insufficiency is confirmed. Then, further tests are done based on which cause is suspected. Because antimüllerian hormone is produced only in small ovarian follicles, blood levels of this hormone have been used to attempt to diagnose decreased ovarian reserve. Normal levels are between 1.5 and 4.0 ng/mL. A very low level suggests decreased ovarian reserve. Reproductive endocrinologists use antimüllerian hormone levels to help predict which women may respond poorly to fertility medications and generally which couples are less likely to be successful with fertility treatment. Antimüllerian hormone can be drawn at any time during the menstrual cycle. Newer, more sensitive antimüllerian hormone tests may help clinicians diagnose early menopause. Genetic counseling and testing for theFMR1premutation are indicated if women have a family history of primary ovarian insufficiency or have intellectual disability, tremor, or ataxia. Karyotype is determined if women with confirmed ovarian insufficiency or failure are<35 or if theFMR1premutation is suspected. If karyotype is normal or if an autoimmune cause is suspected, tests for serum adrenal and anti-21 hydroxylase antibodies (adrenal autoantibodies) are done. Anti-ovarian antibody tests are not recommended because precision in the testing is lacking ( Diagnostic references ). If an autoimmune cause is suspected, tests to check for autoimmune hypothyroidism are also done; they include measuring thyroid-stimulating hormone (TSH), thyroxine (T4), and antithyroid–peroxidase and antithyroglobulin antibodies. If Testing is suspected, measurement of a morning cortisol level or an adrenocorticotropic hormone (ACTH) stimulation test can confirm the diagnosis. Other tests for an autoimmune dysfunction should be done; they include a complete blood count with differential, erythrocyte sedimentation rate, and measurement of antinuclear antibody and rheumatoid factor. Bone density is measured if women have symptoms or signs ofestrogendeficiency. Ovarian biopsy is not indicated. Primary ovarian insufficiency can be classified based on clinical findings and serum FSH levels: Occult primary ovarian insufficiency (diminished ovarian reserve): Unexplained infertility and a normal basal serum FSH level Biochemical primary ovarian insufficiency: Unexplained infertility and an elevated basal serum FSH level Overt primary ovarian insufficiency: Irregular menstrual cycles and an elevated basal serum FSH level Premature ovarian failure: Irregular or occasional periods for years, the possibility of pregnancy, and an elevated basal serum FSH level Premature menopause: Amenorrhea, permanent infertility, and complete depletion of primordial follicles 1.Stuenkel CA, Gompel A, Davis SR, et al: Approach to the patient with new-onset secondary amenorrhea: Is this primary ovarian insufficiency?J Clin Endocrinol Metab107 (3):825–835, 2022. doi: 10.1210/clinem/dgab766 2.Novosad JA, Kalantaridou SN, Tong ZB, Nelson LM: Ovarian antibodies as detected by indirect immunofluorescence are unreliable in the diagnosis of autoimmune premature ovarian failure: A controlled evaluation.BMC Womens Health3 (1):2, 2003. doi: 10.1186/1472-6874-3-2 PMID: 12694633; PMCID: PMC153539. 