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Reflecting on the 2019 AXYS Family Conference

We promised that our 2019 AXYS Family Conference would be the best one yet and we achieved that goal. Nearly 400 participants from as far away as Brazil and The Netherlands gained knowledge and understanding in Atlanta. You could feel the strong sense of community and watch friendships blossom. Here are some comments from those who attended in their own words:

“The people my daughter and I met were amazing.”

“A real sense of community was present at this conference.”

“The camaraderie with other parents was invaluable. Seeing our son mingle with the other guys so comfortably. The bowling, pool, and billiards were a hit!” 

“This conference has changed our lives, and in return our son’s…AXYS is a family I am proud to have, my admiration of the doctors is off the charts!!!”

“I had a WONDERFUL experience at the conference. I learned so much, and my cup is full of knowledge that I am excited to share. I’m already looking forward to the next conference. Thank you to all the people in the background who got things together. I know it’s a job. Thank you so much.”

From an exhibitor: “I wanted to thank you for producing a flawless event where researchers and clinicians could share our findings with the families and other professionals. The event felt very well organized and we felt very well taken care of in terms of food and drink, along with comfortable places to talk with families and among ourselves. Both formal and impromptu discussions about our research with families who have participated in the past, are about to participate in the near future, or are now considering participating thanks to these opportunities, were truly the highlight of the conference.”

AXYS offered live webcasting for the first time. From as far away as Cyprus, 35 families were able to participate from their homes, watching sessions as they happened and submitting questions for the speakers. These sessions were recorded and are available on our YouTube channel.

To share knowledge with those who could not join us and to serve as a review for those in attendance the slide decks and the posters are available on our website. We also have slide decks and recordings from past conferences that remain relevant and offer practical knowledge. Visit https://genetic.org/about/conference-mtrls/.

Everyone at AXYS offers deep gratitude to all who learned from our amazing speakers, enjoyed bowling in Wisteria Lanes, gained new friends, participated in group and family portraits, met researchers, and joined support groups. Over 90% reported the conference met or exceeded their expectations and over 80% said they learned what they were hoping to learn.

Numerous aspects of this event were taken from the suggestions offered after the 2017 conference including: lunch choices, conference t-shirts, having a place for teens and adults to hang out and play cards or board games, having a session with awareness advocates, special ‘retreat’ sessions for parents of infants and toddlers and another retreat on transitioning to adulthood. Most session topics came from our community including: special education, testosterone replacement, fertility, siblings and mental health. Our thanks to all who offered more great suggestions that we will use to plan the next conference.

Oxandrolone Treatment Results in Increased Risk of Gonadarche in Prepubertal Boys With KS (early testosterone use)

Article Title: Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

Authors: Shanlee M. Davis, Najiba Lahlou, Matthew Cox-Martin, Karen Kowal, Philip S. Zeitler, and Judith L. Ross

Date of Publication: June 20, 2018

“Two years of Ox[androlone] treatment in prepubertal boys with KS results in an increased risk of early gonadarche, on average 2 years earlier than in [placebo]-treated boys. Ox did not affect serum concentrations of testicular hormones.”

Rick Frith2022-02-16T12:45:23-05:00Categories: 47,XXY (Klinefelter)|Tags: Early Testosterone Use, Testosterone treatment|

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Article Title: Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Authors: S. van Rijn, L. Stockmann, G. van Buggenhout, C. van Ravenswaaij-Arts, and H. Swaab

Date of Publication: 2014

This 2014 paper by Dr. Sophie van Rijn is an excellent study on the Theory of Mind and “the reported social behavioral difficulties in individuals with an extra X chromosome include shyness, social withdrawal, social anxiety, social immaturity, difficulties in peer relationships, social impulsivity, communication difficulties, reduced social assertiveness and difficulties with ‘being sensitive and responsive to the feelings and rights of others.”

“Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome.”

Rick Frith2019-04-30T09:29:50-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXXY, 48,XXYY|

Recent advances in managing and understanding Klinefelter syndrome

Article Title: Recent advances in managing and understanding Klinefelter syndrome

Authors: Priyanka Bearelly and Robert Oates

Date of Publication: January 28, 2019

“Klinefelter syndrome can present as a wide spectrum of clinical manifestations at various stages in life, making it a chromosomal disorder with no standardized set of guidelines for appropriate management. Understanding the genetic and hormonal causes of this syndrome can allow physicians to treat each patient on a more individualized basis. The timing of diagnosis and degree of symptoms can guide management. This report will provide an updated review of the clinical presentation at various stages in life and the implications for management.”

Rick Frith2019-04-01T11:09:48-04:00Categories: 47,XXY (Klinefelter)|Tags: Featured Research Paper|

How AXYS accomplishes our mission: introducing the 2019 AXYS Committees

Much of the work AXYS does is handled by our committees. The AXYS Executive Committee:
Gary Glissman (Chair)
Larry Rakowski (Vice-chair)
Erin Frith (Secretary)
Myra Byrd (Past-chair)

serves as the main body responsible for fiscal oversight, governance and nominations. They meet monthly and email frequently. We’re grateful for their hard work and dedication that furthers our mission every day.

The AXYS Programs & Services Oversight Committee helps create, monitor, evaluate and prioritize AXYS programs and services designed to assist families and individuals impacted by X & Y variations, and the professionals who serve them. The committee ensures that our programs and services are comprehensive, family-friendly, address all variations and are sensitive to the needs and wants of individuals with a variation.

We thank:
Hannah Acevedo, chair of In-Person Support Group Sub-Committee
Ginnie Cover
Erin Frith, chair of Online Support Group Sub-Committee
Carrie Riby

for their work in this area.

The AXYS Research Oversight Committee apprises the full board of research related to X & Y variations, seeks out and/or recommends ways for AXYS to become involved in or support research, reviews and approves requests by researchers who wish to recruit for research and/or promote their research findings, and monitors the organization’s role in any research.

We thank:
Sheryl Kelly (committee chair)
Sharron Close
Gary Glissman
Susan Howell
Larry Rakowski

for their work in this area.

The AXYS Fundraising and Development Committee assists the AXYS Board and Executive Director in fundraising activities. The committee helps identify, recommend, plan, execute and monitor fundraising opportunities. This includes working with fellow board members, members of the support group network, major donors and the X & Y variation community at-large. The committees identify and recommends tools and techniques to help maximize fundraising results. The committee regularly apprises the board of opportunities, progress and challenges related to fundraising revenue.

Myra Byrd
Gail Decker

The board welcomes volunteers who wish to assist on these committees. We have opportunities of all sizes from a one-time task to ongoing planning. Send an email to our Executive Director and let her know how you can help. She will connect you with the committee leader that best matches your talents and the time you can offer.

Rick Frith2024-06-26T14:09:16-04:00Categories: All Variations|Tags: AXYS News|

AXYS Clinic and Research Consortium Spotlight: Children’s Hospital of Philadelphia

Klinefelter and All XY Variations Program at CHOP

In 2015, the AXYS Board of Directors created the AXYS Clinic and Research Consortium (ACRC). This exciting development committed us to organize, fund and expand a consortium that operates as independent clinics which collaborate with one another, share informational resources, and explore opportunities to participate in joint research projects. In addition, AXYS organizes annual meetings of the consortium where members meet to discuss topics important to the SCA community.

One goal of AXYS is to ensure that all families impacted by X and Y chromosome variations have access to the best available evaluation and treatments. The ACRC is an important means of achieving that goal.

In 2018 the Klinefelter and All XY Variations Program at the Children’s Hospital of Philadelphia (CHOP) joined the ACRC. The clinic’s medical director is Maria G. Vogiatzi, MD, an attending physician in the Division of Endocrinology at CHOP. Her research includes many articles on SCAs including this article published last month: Endocrine aspects of Klinefelter syndrome. A co-author on this paper is Michelle McLoughlin, MSN, CRNP, CPNP-AC, a pediatric nurse practitioner in the Division of Endocrinology and Diabetes at CHOP. Michelle is well-known by many in the AXYS community who live in the Philadelphia region as she treats their children alongside Dr. Vogiatzi. Beth Keena, MS, LCGC and Dr. Zackai provide the genetic counseling for the team.

The CHOP program, established in 2016, follows approximately 80 families. They held their first Klinefelter Patient Family Support Group Symposium on March 9, 2019. AXYS greeted families at the registration desk and shared brochures and information on our 2019 Family Conference. This Saturday morning event offered families scientific and practical information on many aspects of Klinefelter Syndrome from endocrine concerns to behavior.

“We were very excited to see so many families coming to our first support group symposium,” said Dr. Vogiatzi. “We feel that there is a great need for educational and support programs and we expect to hold more events in the future.”

For more information on the program at CHOP contact Office Coordinator Meagan Snow-Bailey or Nurse Practitioner Michelle McLoughlin at 215-590-3174 or send an email to AdrenalPubertyCenter@email.chop.edu

You can learn more on their Website: www.chop.edu/conditions-diseases/klinefelter-syndrome.

Rick Frith2019-03-23T16:58:19-04:00Categories: All Variations|Tags: ACRC, AXYS News|

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Article Title: Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Authors: Nicole R Tartaglia, MD, Rebecca Wilson, PsyD, Judith S. Miller, PhD, Jessica Rafalko, Lisa Cordeiro, MS, Shanlee Davis, MD, David Hessl, PhD, and Judith Ross, MD

Date of Publication: April 2017

“The rate of ASD in children with SCA in this study was higher than expected compared to the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population based on the 2010 Centers for Disease Control (CDC) estimate of 1 in 42 males. ASD is an important consideration when evaluating social difficulties for children with SCA. Studies of males with SCA and Y-chromosome genes may provide insight into idiopathic ASD and male predominance in ASD.”

Rick Frith2019-02-21T11:15:50-05:00Categories: 47,XXY (Klinefelter), 47,XYY, 48,XXYY|

Research Suggests a Cure for Neuroticism

Article Title: Research Suggests a Cure for Neuroticism

Author: Susan Krauss Whitbourne, PhD

Date of Publication: July 11, 2017

“Although personality traits are theoretically unchangeable, as they are thought to be part of the fabric of the individual’s psyche, new research suggests some ways that people high in this quality can feel happier about themselves and their lives.”

Rick Frith2018-11-30T12:58:56-05:00Categories: All Variations|

Neuroses and neuroticism: What’s the difference?

Article Title: Neuroses and neuroticism: What’s the difference?

Author: Adam Felman

Date of Publication: January 9, 2018

“The word neuroses was originally coined in the 18th century to label a range of psychological disorders that could not usually be linked to a physical cause. It is often confused for neuroticism, a personality trait.”

Rick Frith2018-11-30T12:48:27-05:00Categories: All Variations|

DNA Hypermethylation and Differential Gene Expression Associated with Klinefelter Syndrome

Article Title: DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Authors: Anne Skakkebæk, Morten Muhlig Nielsen, Christian Trolle, Søren Vang, Henrik Hornshøj, Jakob Hedegaard, Mikkel Wallentin, Anders Bojesen, Jens Michael Hertz, Jens Fedder, John Rosendahl Østergaard, Jakob Skou Pedersen, and Claus Højbjerg Gravholt

Date of Publication: September 13, 2018

“Recently, a few studies have provided evidence that KS may be associated with widespread changes in the methylome of both blood and brain tissue. These genome-wide alterations in DNA methylation may play a role in the biological mechanisms underlying the clinical KS phenotype by affecting chromatin structure and gene expression and thereby potentially be responsible for the development of phenotypical traits and diseases.
Interestingly, alterations of the trancriptome in blood, brain tissue and testis tissue in KS have also been demonstrated, thereby supporting the hypothesis that sex chromosomes may regulate gene expression throughout the genome.”

Rick Frith2018-11-20T10:49:30-05:00Categories: 47,XXY (Klinefelter)|