Here’s what you should know about Fragile X associated poor ovarian reserve

Do you have irregular cycles and finding it difficult to conceive? You visit a gynaecologist to find out your levels of Follicle Stimulating Hormone to be higher-than-normal. In such cases, your doctor may advise you to consult an infertility specialist. After taking your history and other things into consideration, the specialist may recommend getting tested for Fragile X Syndrome. According to Dr. Hrishikesh Pai, MD, Bloom IVF Group, every woman with poor ovarian reserve should be tested for Fragile X Syndrome. So, here’s what you should know about it according to the doctor. 

Fragile X Syndrome

Fragile X syndrome is an inherited genetic disease that causes developmental and intellectual disabilities. This syndrome is caused by a defect in the FMR1 gene located on the X chromosome. The mutation or defect in this FMR1 gene prevents it from producing the protein called the fragile X mental retardation 1 protein, which is crucial for maintaining the nervous system’s health. Being a fragile X permutation carrier may increase your risk for various medical conditions, such as premature menopause.

Fragile X-Associated Poor Ovarian Reserve

Fragile X-associated primary ovarian insufficiency is one of the three disorders due to a change in the FMR1 gene. In this condition, your ovaries cannot function at a full capacity. Ovaries are a crucial part of a woman’s reproductive system that contains all the eggs. These eggs are released in the uterine cavity, where they wait to be fertilized. In cases where the eggs aren’t fertilized, they pass out of the body through menstrual blood.

Besides, ovaries also produce hormones essential for the preparation and maintenance of eggs and are vital for fertility. As the woman ages, her ovaries lose certain functions and cannot release eggs. Further, the eggs also age and may not be healthy enough to support the fertilisation and development of a baby.

In a woman with Fragile X-associated primary ovarian insufficiency (FXPOI), the ovaries do not function to their optimal capacity and resemble an older woman’s ovaries, both in quality and quantity of eggs.

Signs and Symptoms of FXPOI

Some common symptoms include:

Irregular or absent cycles

Infertility or reduced fertility

Hot flashes

Cessation of periods before the age of 40

Fragile X Management

So, as mentioned earlier, FMR1 premutation carriers may get pregnant. But all carriers have a higher risk of having a baby with FXS. So, it is recommended to meet a genetic counsellor for discussing reproductive issues.

If you conceive naturally, you can do prenatal testing by undergoing a chorionic villus sampling (CVS) test at 10-12 weeks of pregnancy or an amniocentesis at 15 weeks of pregnancy. This can evaluate the genetic status of the pregnancy.

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