For Health Professionals

The World Menopause Congress 2024 is taking place in Melbourne 19-21 October.

At the Fragile X booth in the Exhibition Space for the Congress we have been profiling several key resources for Health Practitioners about the Fragile X premutation:

FXPOI –  Fragile X And Premature Ovarian InsufficiencyFact Sheet for health professionals, from Australasian Menopause Society.

Key Points from the Fact Sheet:

  • Fragile X disorders are due to the expansion of CGG repeats in the FMR1 gene on the X chromosome.
  • The Fragile X premutation (55-200 CGG repeats) affects 1/150-300 women
  • 16-30% of premutation carriers will develop premature ovarian insufficiency (POI). The highest risk and earliest onset of POI is seen in women with 70-100 CGG repeats.
  • There is an overlap between symptoms associated with Fragile X premutation and POI
  • Fragile X screening is recommended for all women diagnosed with spontaneous POI
  • Management of Fragile X POI is similar to other causes of POI
  • Women with the fragile X premutation should be referred for genetic counselling and Fragile X screening offered to family members. Referral for fertility preservation should be considered for premutation carriers

The Fact Sheet is available to download from the Australasian Menopause Society website

Reproductive Genetic Carrier Screening –   Guidance Statement for Females with the Fragile X Premutation
This statement intended for use by medical practitioners to discuss with their patients, and was produced by Fragile X Association of Australia and Fragile X Alliance, 2024.

Key points from the Guidance Statement:

The Fragile X premutation does not cause Fragile X syndrome.

Females with a Fragile X premutati0n are generally healthy but may have an increased chance of having:

  • children with Fragile X syndrome
  • fertility problems and/or early menopause

Risk and counselling advice vary with the size of the premutation, and many women will not develop any symptoms or be affected. Information in this statement is mainly derived from studies of families who have a member with the full mutation and so may not apply to women ascertained from population screening who have a member with the  full mutation and so may not apply to women ascertained from population screening.

The Fact Sheet is available as a pdf  Guidance Statement for FXS PM carriers_13Mar2024

Email: support@fragilex.org.au

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Your generous donation will help FXAA ensure people living with Fragile X are connected, included, understood and empowered. Specifically, your donation will help us maintain and deliver support and connections to the Fragile X community around Australia: 1. Counselling support 2. FXAA Helpline - available 5 days per week - 1300 394 636 3. Webinar program 4. Peer connection and referrals 5. Advocacy work – for example, our Fragile X Care | Adults & Ageing research study. This is the first Australian study on the support needs, health & wellbeing of adults with Fragile X syndrome as they age. All support is sincerely appreciated and helps us make a difference for the Fragile X community.

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