What’s in a name?
The fourth edition of the ‘Workshop on Klinefelter and other supernumerary sex chromosome abnormalities’ was held on October 8- 10 in Padua, Northern Italy. In 2022 the title was ‘3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY’ and maybe the difference in title already tells us something.
In this workshop, researchers and health care professionals from the US and several European countries come together to share recent scientific information. As of 2022, also representants of people with the diagnoses are welcome.
After the great experiences in Leiden, The Netherlands (my home town) in in 2022, I decided to go this time also. And not only attend but also have an active role, representing adult women with trisomy X and parents of children.
My poster about prenatal testing
In the international Facebook group where I am one of the moderators, we see many expecting parents who receive unexpected NIPT results. They are informed the baby has a higher risk of trisomy X. Many of them are shocked by this message. We try to help them by sharing experiences, pictures and good quality information. Some of them seem not to know that NIPT is not a diagnosis but indicates a higher risk. My wish is they receive better information from health care professionals. That is why I made a poster, quantifying all our new members of 2024 and especially the description of NIPT by new members when they answer membership questions. In my country, The Netherlands, NIPT does not include X and Y chromosomes so we do not see this in our Dutch Facebook group. My poster and abstract have their own page on my website.
Highlights
The focus of the 2025 Workshop was on 47,XXY, Klinefelter and especially on fertility and male hormones. Some highlights were the presentation by Dr. Nicole Tartaglia on the development from birth to 36 months, for 47,XXY 47,XYY and 47,XXX, which are quite similar. ‘Dr. T’ is so enthusiastic, is it great to see and hear her. Other interesting presentations were on early life stress and overviews of the steps that lead from an extra chromosome to the developmental difficulties and other symptoms.
United advocacy groups
Another highlight was meeting colleagues from other advocacy groups.
We were around ten people. From Norway to Spain and Italy and somebody from AXYS, US. And representing XXY, XYY, XXX and XXYY. We hope to keep in touch, for now in a Whatsapp group. In this way, we hope to have our voices heard even better in future research.
