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 Dr. Hrishikesh Pai,Gynaecologist & Infertility specialistA-791, Bandra Reclamation, Bandra (W)Mumbai - 400050 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.
Does this sound familiar? Are you wondering what this syndrome is, and why is it
important to get tested for it?
Well, if the answer to these questions was a yes, this article will detail
everything about this condition and poor ovarian reserve associated with it.
According to Dr. Hrishikesh Pai, MD, Bloom IVF Group, every woman with poor
ovarian reserve should be tested for Fragile X Syndrome. So, let’s understand
more about it.
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 fertilization 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.
It is also seen that 4 % – 6 % of women with infertility signs and, if not
tested, can have a child with Fragile X Syndrome, which causes intellectual
disability and Autism.
So, females with infertility who have got poor ovarian reserve, especially at an
early age, need to be tested for Fragile X syndrome so that they can make an
informed decision. Normally women with poor reserve have low AMH (anti-Mullerian
hormone) levels <1.2 ng/ml, elevated FSH levels and low antral follicle count on
ultrasound examination.
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
Dr. Hrishikesh Pai, MD, Bloom IVF Group, says, “While women with FXPOI have
symptoms similar to those of menopause, it differs from menopause.”
Some differences are as follows:
Women with FXPOI
Women who have completed menopause
Can get pregnant as their ovaries may occasionally function and release viable
eggs.
Cannot conceive as the ovaries do not release eggs at all.
May experience a return of menstrual periods.
Cannot have menstrual periods again.
Fragile X Awareness
The Fragile X Society-India was set up in 2003 as a support group for families
affected with Fragile X Syndrome. Soon their mission grew to spread awareness
for this lesser-known inherited condition, which affects millions of people.
“Awareness opens doors for the affected child to receive research-based targeted
treatments and empowers the family with reproductive options,” says Shalini
Kedia, Chairperson, Fragile X Society.
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.
If the pregnancy is having Fragile X Syndrome then one can terminate the
pregnancy after proper counselling and advice. In India, the termination of
pregnancy is allowed till 20 weeks of pregnancy.
But if the patient cannot conceive naturally, you can discuss various assisted
reproductive options with an infertility specialist. They may suggest
alternatives such as:
- IVF with eggs donated by a non-carrier
- “IVF with your own eggs – in which case the testing of the embryos can be done
prior to the insertion of the embryo into the womb. This facility called
Preimplantation Genetic Testing
for monogenic disorders is being done by the Bloom IVF Group at its various
centres located in New Delhi, Gurgaon, Mohali Chandigarh, Mumbai and Navi
Mumbai”, informed Dr Hrishikesh Pai, MD, Bloom IVF Group.
- Adoption
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