Fragile X Syndrome and Fertility: What You Need to Know

What Is Fragile X Syndrome?

Fragile X Syndrome (FXS) is one of the most common inherited causes of intellectual disabilities. It occurs due to a mutation in the FMR1 gene, located on the X chromosome.

• Men, having only one X chromosome, are usually more severely affected. They may show signs such as:
  • A broad forehead
  • Large ears
  • Hyperflexible fingers
  • Flat feet
• Women tend to have milder symptoms because their second X chromosome can often compensate for the mutation.

Understanding the Genetic Basis of Fragile X

Fragile X is linked to a specific DNA sequence—CGG repeats—within the FMR1 gene. Genetic testing focuses on counting these repeats:

• Normal: 5–55 repeats
• Premutation: 55–200 repeats
  • Individuals may show no symptoms but can pass the mutation to their children.
• Full Mutation: Over 200 repeats
  • Causes Fragile X Syndrome, along with intellectual and developmental challenges.

How Fragile X Affects Fertility

In Women with the Premutation

Around 20% of women carrying the premutation experience premature ovarian failure (POF)—a condition that includes:

• Reduced fertility
• Early menopause
• Low ovarian reserves

This is much higher than the 1% seen in the general population.

In Men with the Premutation

Although rarer, men may develop Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) later in life, affecting overall health. Its direct impact on fertility is still being researched.

Treatment and Support Options

Although there is no cure for FXS, various approaches can help individuals and families manage it:

• Medications to treat anxiety, hyperactivity, and mood-related symptoms
• Behavioral and developmental therapies to support learning and communication

Reducing the Risk of Passing on Fragile X

Couples with a family history or fertility concerns related to Fragile X should consider:

• Genetic Counseling and Testing to identify carriers of the FMR1 premutation
• Preimplantation Genetic Diagnosis (PGD) during IVF to select embryos without the full mutation
• Testing women with early menopause or low ovarian reserve for possible FMR1 premutations

Fertility Care for Premutation Carriers at Sakalli IVF

At Sakalli IVF, we understand the challenges faced by women who carry the FMR1 premutation. Our team offers:

✅ Personalized Fertility Plans

Tailored approaches based on your ovarian reserve, hormone levels, and reproductive goals.

✅ Egg Donation Programs

An effective solution for women with significantly reduced ovarian function.

Our compassionate fertility specialists are here to guide you with the latest diagnostics and treatment options to help you build the family you’ve been dreaming of.

Take the First Step Today

If you or your partner has a family history of Fragile X Syndrome, or if you’re facing fertility challenges, the team at Sakalli IVF is ready to help.

Contact us for a consultation and explore how we can support your journey toward parenthood—with knowledge, care, and science on your side.