Primary ovarian insufficiency

Diagnosis

The diagnosis for primary ovarian insufficiency begins by discussing the symptoms, assessment of medical history, and performing a physical or pelvic exam. It may be helpful that women track their regular menstrual cycle, previous pregnancies, and birth control use. The doctor may initially suspect the disease if a person has several symptoms, having difficulty getting pregnant and has irregular menstrual cycle. To confirm the diagnosis, several tests may be required, such as:

• Pregnancy: This test will rule out unexpected pregnancy especially if the woman is of reproductive age and has missed a period.
• Hormone: The healthcare provider may require a blood test to determine the level of specific hormones in the body, such as follicle stimulating hormone (FSH), estrogen and prolactin.
• Chromosome changes or autoimmune disease: A blood test to examine for genetic disorders and an antibody test to check for autoimmune disease may be needed to diagnose a primary ovarian insufficiency. A karyotype analysis is a blood test that looks for unique variations in the chromosomes or the presence of the FMR1 gene, which is linked to fragile X syndrome.

Treatment

Currently, there is no permanent treatment for primary ovarian insufficiency. The treatment depends on the age, symptoms, and goal to become pregnant. In most cases, the treatment often focuses on the issues caused by estrogen insufficiency. The doctor may advise:

• Hormone replacement therapy (HRT): This treatment provides the body with hormones that the ovaries cannot produce. Hormone therapy may consist of taking only estrogen or estrogen and progesterone. Common symptoms like night sweats and vaginal dryness can be reduced with hormone therapy. It also reduces the risk for osteoporosis and other illnesses caused by primary ovarian insufficiency.

Commonly, if the uterus remains intact, the doctor may administer estrogen in conjunction with the progestin hormone. Adding progesterone protects the uterine lining (endometrium) from precancerous alterations induced by estrogen alone. Hormone therapy may be prescribed in a variety of forms, including tablet, cream, gel, patch, or vaginal ring.

Hormone treatment may be utilized until 50 or 51, the age at which menopause usually starts, depending on women’s health condition and preferences. With HRT, a woman is expected to have regular periods again. However, it cannot recover normal ovarian function.

Hormone therapy is most beneficial in younger women since it provides more benefits than risks. In older women, the healthcare provider may discuss the risk associated with long-term use of estrogen plus progestin medication considering that it has been associated to a higher risk of heart and blood vessel problems, as well as breast cancer.

• Calcium and vitamin D supplements:  These nutrients are important to bone health. Taking calcium and vitamin D supplements can lower the risk of getting osteoporosis associated with primary ovarian insufficiency. The doctor might recommend a bone density testing prior taking supplements to establish a baseline reading. This is beneficial to women who are not getting enough nutrients from food or sun exposure.

Recommended daily intake of calcium depends on one’s age. Experts normally recommend 1,000 milligrams (mg) of calcium daily through diet or supplements for women aged 19 to 50. For women aged 51 and up, it may increase up to 1,200 mg per day.

The doctor may advise to take larger amounts of vitamin D for those whose levels are too low. Generally, adults should consume 600 to 800 international units (IU) per day, either through food or supplements. However, the recommended daily intake of vitamin D is still unknown.

• Addressing infertility: Infertility is common in women with primary ovarian insufficiency. Unfortunately, there is still no known cure for it. For couples who demand to get pregnant, the doctor may recommend procedures such as donation eggs, IVF (in vitro fertilization), and/or fertility drugs. In IVF, eggs are extracted from a donor and fertilized with sperm. After then, a fertilized egg (embryo) is implanted in the uterus. Women with higher risk for primary ovarian insufficiency and who want to get pregnant in the future may consider fertility preservation.