From the Guidelines
For a patient suspected of having ovarian insufficiency, initial testing should include serum follicle-stimulating hormone (FSH) and estradiol levels, as these are the primary markers for evaluating ovarian function 1.
Initial Evaluation
The diagnosis of ovarian insufficiency is primarily based on clinical presentation and laboratory findings.
- FSH levels above 25-40 IU/L on two occasions at least one month apart, along with low estradiol (typically <50 pg/mL), strongly suggest ovarian insufficiency 1.
- A detailed history and physical examination with specific attention to premature ovarian insufficiency symptoms, such as amenorrhea and irregular cycles, is recommended for post-pubertal survivors treated with potentially gonadotoxic chemotherapy and/or radiotherapy potentially exposing the ovaries 1.
Additional Testing
Additional tests may be considered to evaluate ovarian reserve and to rule out other potential causes of symptoms.
- Anti-Müllerian hormone (AMH) levels may provide additional information about ovarian reserve, particularly in women aged 25 years or older who present with menstrual cycle dysfunction suggesting premature ovarian insufficiency or who desire assessment about potential future fertility 1.
- Thyroid function tests (TSH, free T4) and prolactin levels should be evaluated to rule out other potential causes of menstrual irregularities 1.
- Karyotype analysis may be considered to identify potential genetic causes, particularly in women under 30 1.
- Testing for adrenal antibodies may be recommended to rule out autoimmune causes, as autoimmune disorders frequently coexist with ovarian insufficiency 1.
Imaging Studies
Transvaginal ultrasound to assess antral follicle count and ovarian volume may provide complementary information about ovarian reserve 1.
Special Considerations
For pre-pubertal survivors, monitoring of growth and pubertal development and progression is recommended, and FSH and estradiol levels should be evaluated if there is a failure to initiate or progress through puberty 1. In post-pubertal females, a detailed menstrual history and physical examination should be performed, with specific attention paid to symptoms of premature ovarian insufficiency, such as amenorrhea and irregular cycles 1.
From the Research
Diagnostic Tests for Ovarian Insufficiency
To diagnose ovarian insufficiency, several tests can be performed, including:
- FSH (follicle-stimulating hormone) level test: an elevated FSH level greater than 40 IU/L can indicate ovarian insufficiency 2
- Estradiol level test: a low estradiol level below 50 pmol/L can also indicate ovarian insufficiency 2
- Thyroid function tests: to rule out thyroid disorders that may be contributing to ovarian insufficiency 2
- Autoimmune screen: to check for autoimmune disorders that may be associated with ovarian insufficiency 2
- Karyotype test: to check for chromosomal abnormalities that may be contributing to ovarian insufficiency, particularly in women under 30 years old 2
- Bone mineral density test: to assess the risk of osteoporosis, which is increased in women with ovarian insufficiency 2
Additional Tests
Other tests that may be performed to evaluate ovarian function include:
- Inhibin B level test: low levels of inhibin B can indicate ovarian failure 3
- Anti-Müllerian hormone (AMH) level test: low levels of AMH can predict imminent premature ovarian insufficiency in Turner syndrome patients 4
- Serum estradiol level during withdrawal bleeding: a level of 15.5 pg/mL or higher can predict follicle growth and ovulation in women with primary ovarian insufficiency 5
Special Considerations
In some cases, additional tests may be necessary to rule out other conditions that may be contributing to ovarian insufficiency, such as: