For making premature ovarian failure diagnosis, your treating doctor may seek some information from you like:
- Signs and symptoms you have been experiencing
- Your menstrual cycle details
- Your history of any kind of exposure to toxins, like chemotherapy/radiation therapies (These therapies directly affect your follicles and eggs).
Your treating may recommend one or more of other tests after knowing from you other experienced signs and symptoms such as:
If you happen to have attained puberty and are in the childbearing age and have missed your periods, your treating doctor may conduct a pregnancy test on you to ascertain the possibility of an unexpected pregnancy.
Follicle-Stimulating Hormone (FSH) Blood Test
For knowing the ovarian failure prematurely, your doctor may take your blood sample to ascertain the Follicle-Stimulating Hormone (FSH) level in it. The FSH hormone is released by the pituitary gland. The hormone helps in stimulating the follicle growth in your ovaries.
An Estradiol test is another blood examination to quantify the Estradiol level in your blood. It is also known as an E2 Test. The hormone is different form of estrogen hormone, better known as a 17 beta-estradiol. Your adrenal glands, ovaries and breasts produce this hormone and during your pregnancy. The placenta, an organ that originates during your pregnancy, also produces Estradiol. The Estradiol hormone helps in developing and growing the female sex organs.
Women having premature ovarian failure or insufficiency will have low Estradiol hormone levels in their blood.
Prolactin is also known as PRL or Lactogenic Hormone. The hormone is generated by the pituitary gland. Prolactin plays a vital role in both women and men’s reproductive health. Its foremost function is to stimulate the milk production in women after the birth of her child.
Prolactin test is a blood test that quantifies the prolactin hormone level in your body.
The test is carried out in case you have symptoms of Prolactinoma. Prolactinoma is a benign (non-cancerous) tumor on the pituitary gland that produces higher amount of prolactin. The prolactin hormone stimulates production of breast milk, which can eventually lead to ovulation and infertility problem or interfere with your menstrual periods.
The Karyotype Test is carried out as a routinely after the diagnosis of POF/POI is confirmed. This is done to examine all of your 46 chromosomes for any kind of abnormality. Normally, the women should have two X chromosomes. Some of the women having premature ovarian failure (or insufficiency) may have only one X chromosome instead or may have some other chromosomal defects.
In addition, unforeseen karyotype results may have significant implications for future pregnancies and other relatives. While a standard karyotype may be heartening to the patient, an abnormal one may be detrimental to your future course of action.
FMR1 gene testing
Fragile X-associated Primary Ovarian Insufficiency is one of the Fragile X-associated disorders. All of the FX disorders happen because of the changes in the FMR Gene (Fragile X Mental Retardation 1).
In the FXPOI condition, the ovaries do not function fully in an FMR1 pre-mutation carrier. Irregular menstruations, early menopausal symptoms like hot flashes, fertility issues are some of the common symptoms of FXPOI.
The FMR1 gene, primarily, is a human gene found in the brain. Mutations of the gene lead to Fragile X Syndrome that causes intellectual issues.
The FMR1 test will examine both of your X chromosomes to ensure that they are normal.