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Can Fragile X Syndrome Affect Fertility?

Female Infertility 30/09/2024 0 2 menit

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Reviewed by dr. Chitra Hetti Fatimah

Fragile X Syndrome is a genetic disorder that can affect fertility, especially in women.
Have you ever heard of Fragile X Syndrome? This condition is also known as Martin-Bell syndrome. Fragile X Syndrome is a genetic disorder that can cause physical, mental, and behavioral developmental issues.

In general, Fragile X Syndrome occurs due to hereditary factors. However, someone with no family history of this condition can also experience it.
Currently, Fragile X Syndrome cannot be cured. However, there are several therapies that can reduce the severity of symptoms, helping individuals in their daily activities.

Causes of Fragile X Syndrome

Fragile X Syndrome is caused by a change or mutation in the FMR1 gene (Fragile X Mental Retardation 1) on the X chromosome. The X chromosome is one of the sex chromosomes, with the human body consisting of X and Y chromosomes.

If women have XX chromosomes, men have XY chromosomes. Therefore, Fragile X Syndrome is more commonly experienced by boys than girls. This is because girls still have a normal X chromosome.

However, women with Fragile X Syndrome can also pass this condition on to both their sons and daughters. In general, the FMR1 gene functions to produce a protein called Fragile X Mental Retardation 1 Protein (FMRP).

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This protein plays a role in maintaining and supporting the function of the nervous system and brain development. In children with Fragile X Syndrome, their bodies cannot produce FMRP. A lack of this protein can lead to the development of symptoms associated with Fragile X Syndrome.

Symptoms of Fragile X Syndrome

The symptoms of this syndrome can appear at birth or when children enter puberty. Some symptoms that can be experienced by individuals with Fragile X Syndrome include:

Growth issues:

Developmental delays, such as crawling, learning to sit, or walking
Low intellectual abilities, which can even worsen with age
Speech difficulties
Sensitivity to light and sound
Difficulty understanding and learning new things

Behavioral issues:

Hyperactivity (ADHD)
Avoiding eye contact with others
Disliking being touched
Difficulty understanding body language
Shyness or anxiety in social situations

Physical abnormalities:

A longer face shape
Larger head and ears
A longer face
A more prominent chin and forehead
Loose joints

Can Fragile X Syndrome Affect Fertility?

One factor that can affect fertility is genetic disorders. Genetic disorders occur due to changes in DNA that can affect one or more genes.
In some cases, this condition is inherited from one or both parents. Some genetic disorders that can affect women’s fertility include Kallmann syndrome, Fragile X syndrome, and Turner syndrome.

Many cases show that women with Fragile X syndrome may experience early menopause or menopause before the age of 40.
According to research published in the journal Current Opinion in Obstetrics and Gynecology, Fragile X syndrome is one of the leading causes of premature ovarian failure and irregular menstruation, which can affect fertility.

Couples with Fragile X syndrome should undergo counseling or consultation before pursuing pregnancy programs.
Additionally, genetic disorders can cause structural changes in a woman’s reproductive system, which can make it difficult to conceive or even maintain a pregnancy.
In some cases, women with this syndrome may not be able to conceive naturally and may need assisted reproductive technologies (ART) such as in vitro fertilization (IVF).

Is Genetic Testing Necessary When Planning a Pregnancy?

Many people are unaware of genetic disorders in their bodies. Moreover, genetic testing is not a routine examination when preparing for pregnancy or during pregnancy.
Doctors may recommend testing if you have a family history of genetic disorders or are at high risk, such as women planning a pregnancy over the age of 35.
Fragile X syndrome is a genetic disorder that can be passed on to children. This syndrome can cause cognitive and intellectual disabilities.

Even babies with Fragile X syndrome may experience delayed speech development. Other signs include anxiety disorders and hyperactive behavior.
This explanation highlights the impact of Fragile X syndrome on women’s fertility. If you or your partner are affected by this condition, it is advisable to consult a doctor before planning a pregnancy.

Source:

Martin, JR., Arici, A. (2008). Fragile X and reproduction. Curr Opin Obstet Gynecol. 2008 Jun;20(3):216-20.
National Institute of Child Health and Human Development. Treatments for Infertility Related to Fragile X-Associated Primary Ovarian Insufficiency.
Salcedo-Arellano, MJ., et al. (2020). Fragile X syndrome and associated disorders: Clinical aspects and pathology. Neurobiol Dis. 2020 Mar:136:104740.
Ciaccio, C., et al. Fragile X syndrome: a review of clinical and molecular diagnoses. Ital J Pediatr. 2017 Apr 19;43(1):39.