Your risk for primary ovarian insufficiency

IF you are under 40 and frequently skip or miss your periods, while you may see it as a blessing from above, it could also be a sign of primary ovarian insufficiency (POI).

Dr Daryl Daley, obstetrician-gynaecologist at Gynae Associates, told All Woman that while POI, also known as premature ovarian failure, premature menopause or gonadal dysgenesis isn’t the only cause of a missed period, it can be an emotional diagnosis for the patient, her spouse and her family.

He said to determine POI, the depletion of follicles and oestrogen before age 40 is analysed.

“Oestrogen is one of the main hormones which is secreted from follicles within the ovaries and contributes to a woman’s overall well-being and sexual function. Women are born with around one million follicles. These are lost at a rate of 1000 follicles per month. At around 51, these follicles have completely depleted and there is a subsequent decrease in oestrogen levels. When depletion of follicles and oestrogen has occurred prior to the age of 40, this is called primary ovarian insufficiency,” the ObGyn said.

According to Dr Daley, POI affects one in 100 women younger than 40 years and in the majority of cases, a cause is unidentifiable thus making the diagnosis extremely frustrating. He explained that underlying health issues are often common causes of the condition.

“Chemotherapy and radiotherapy for treatment of childhood cancers can result in irreparable damage to the ovaries and is a common cause of POI. In autoimmune conditions, the immune system produces antibodies that attack and destroy organs including the ovaries, thus causing POI,” he said.

He added: “Women normally have two X chromosomes, which are derived from either parent. In Turner’s Syndrome (Gonadal Dysgenesis), there is only one functioning X chromosome, which leads to improper development of the ovaries and predisposes the patient to POI. Fragile X syndrome is an abnormal expression of a gene on the X chromosome that leads to mental retardation in boys. This genetic defect can also be present in women and cause POI. Lastly, as a cause of POI, there may be defects in the production or activity of ovarian hormones even in the presence of normal ovaries.”

Dr Daley said women in their mid-40s may have irregularities in their menstrual cycles as they approach natural menopause, but in POI, patients may present similarly with frequent skipped periods or may have complete absence of periods; however, there are other details which should not be ignored.

“There will also be difficulty in conceiving and associated infertility. Due to the lack of oestrogen, patients will also present with the classic menopausal signs and symptoms, which include hot flashes, night sweats, irritability, poor concentration, decreased sex drive, vaginal dryness and painful sexual intercourse,” he said.

He added that oestrogen encourages bone strength and integrity, so a lack of same can predispose patients with POI to osteoporosis. Also, he mentioned that with low oestrogen, there is abnormal lipid and cholesterol levels, which can lead to cardiovascular dysfunction in the form of heart attacks and strokes in the long term.

To confirm the condition, Dr Daley said a combination of the patient’s history and complaints, examination, laboratory investigations and imaging are used. He said that in the menopausal period, hormones secreted from the brain that aid in regulating the ovaries are increased up to five-fold and can be detected within the blood.

“This in combination with low or absent oestrogen levels are confirmatory of POI. Circulating antibodies, which can destroy the ovaries, can also be detected. Genetic testing can confirm abnormal chromosomes such as those associated with Turner’s Syndrome and Fragile X Syndrome. On an ultrasound the ovaries may appear small and very few follicles will be seen, suggesting POI,” he said.

Though the thought of early menopause and its sequel can be quite traumatic to the patient, her spouse and her family, Dr Daley said it is very important to incorporate adequate counselling, sometimes with a mental health aid as these patients are prone to depression.

Dr Daley said there are two main areas of focus for treatment — treating the low oestrogen levels and treating infertility.

“The aim of oestrogen replacement is to decrease the menopausal symptoms due to the lack of oestrogen and its long-term complications,” he said. “Oestrogen can be administered orally, via patches or via devices which are placed under the skin, and topically.”

He added: “The oestrogen is continued until the time of normal menopause (around 51). Some women may not be able to have oestrogen, such as women with a history of previous blood clots. In these women, alternative non-hormonal medication such as anti-depressive medication can be used and have been proven to be beneficial. All women with this condition should be encouraged to have a balanced diet and to exercise regularly.”

Of note, Dr Daley said 10 per cent of women with POI will be able to conceive naturally. However, in women who cannot conceive naturally, assisted reproduction in the form of in-vitro fertilisation will have to be offered.