As with any disorder, the evaluation begins with a careful medical history, including cancer chemotherapy or radiation therapy. A history of ovarian surgery, such as removal of endometriomas, is also important. Mumps oophoritis is a rare cause of POF, as is galactosemia. Symptoms such as anorexia, weight loss, abdominal pain, weakness, salt craving, and increased pigmentation of the skin suggest Addison's disease. Symptoms and findings associated with autoimmune disease should be sought. Because of the association of POF with the FRAXA premutation, a detailed family history should be obtained and screening for the FRAXA premutation should be done to help prevent the transmission of fragile X syndrome by family members.
Pelvic examination or ultrasound may reveal ovarian enlargement, suggestive of autoimmune oophoritis. As mentioned above, the presence of ovarian follicles on ultrasound examination does not exclude the diagnosis of POF.
The diagnosis of POF is made by the finding of amenorrhea in combination with an elevated FSH level, usually over 40 mIU/ml. This level should be confirmed by repeating an FSH assay two to four weeks later.
Because of the risk of gonadal neoplasm in women with POF who have a Y chromosome, a karyotype should be obtained in all women with POF.
Antiovarian antibody testing is investigational and not of clinical relevance at this time. Testing for hypothyroidism and diabetes mellitus is appropriate based on a study showing that 2.5% of women with POF not known to have diabetes were found to have an abnormal glucose tolerance test. Likewise, 10% of those not known previously to be hypothyroid had an elevated TSH. ACTH stimulation testing, serum electrolytes, and calcium levels were found to be of no value. Testing for adrenal insufficiency and hypoparathyroidism may be reserved for cases in which it is otherwise clinically indicated.
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