Testosterone Early Use – Tartaglia, Rogol, 2010

Article Title: Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)

Authors: Nicole Tartaglia MD and Alan Rogol, MD, PhD

Date of Publication: 2010

“Boys with the Klinefelter syndrome may be sub-sufficient in androgen activity and require replacement therapy. That is controversial for the ‘mini’-puberty during the first few months of life. Whether androgen therapy will be helpful to boys between “mini” puberty and adolescence is being studied with the weak androgen, oxandrolone. Replacement starting in mid-puberty is required for most males with KS and important for the developmental of secondary sexual characteristics, and to permit the normal accrual of muscle mass, bone mineral content, adult regional distribution of body fat. Secondary goals of psychosocial development and both positive or negative behavioral effects of testosterone in KS need further study.”

Testosterone Early Use – Ross, 2005

Article Title: Early Androgen Deficiency in Infants and Young Boys with 47,XXY Klinefelter Syndrome

Authors: Judith L. Ross, Carole Samango-Sprouse, Najiba Lahlou, Karen Kowal, Frederick F. Elder, and Andrew Zinn

Date of Publication: August 3, 2005

“The neonatal surge in testosterone was attenuated in our KS population. Thus, infants and young boys with KS have evidence of early testicular failure. The etiology of this failure and the clinical role of early androgen replacement require further study.”

Testosterone Early Use – Fennoy, 2004

Article Title: Inhibin B and Anti-Müllerian Hormone, But Not Testosterone Levels, Are Normal in Infants with Nonmosaic Klinefelter Syndrome

Authors: Najiba Lahlou, Ilene Fennoy, Jean-Claude Carel, and Marc Roger

Date of Publication: 2004

“Klinefelter syndrome is a major cause of infertility in the male. Nevertheless, pregnancies were recently obtained by intracytoplasmic injection of sperm retrieved by surgery or ejaculation, underscoring the need to understand the role of Sertoli and Leydig cell secretions during development.”

2019 AXYS Family Conference

Presentation videos, presentation slides, and poster presentations!

2019 AXYS Family Conference | Atlanta, Georgia | June 28-30

Emory Conference Center Hotel

1615 Clifton Road NE Atlanta, GA 30329

This will be our best conference yet. Top researchers and clinicians will share the latest knowledge so you gain a greater understanding of X and Y conditions and take home practical information about the conditions and how they affect all ages. No matter which condition exists in your family, we have the information you seek.

This amazing conference includes:

Informative sessions with researchers, clinicians, experts and advocates. Check out the full agenda. Check back often as we add speakers and topics.
Social time to meet other families and get to know them. Often the most impactful conversations and connections happen at the pool or during a meal.
A warm, welcoming facility with indoor and outdoor spaces for both large gatherings and small quiet conversations.
A space for teens and adults with conditions that includes a bowling alley, pool tables and games.
Two days of sessions, conference materials and a delicious buffet lunch Saturday and Sunday.

New this year:

Be rewarded with FREE conference registration, hotel accommodations or both when reaching the reward level you choose in our new Road to Atlanta “rewards” program. If you are participating in the program and achieve your goal, AXYS will handle your registration and hotel room so no need to register or book your room beforehand. Sign up and start fundraising today. (The Road to Atlanta fundraiser deadline is May 31.)

Conference t-shirts. Don’t forget to pre-order during registration, as shirts will not be available for purchase at the conference.

Conference pricing:

Adult	$325
Adult/Teen with Condition	$225
Child (under 18)	$225
Student/Poster Presenter (Graduate students and trainees in related field of study)	$225
Conference Hotel Rooms	For current pricing, please contact Emory Conference Center Hotel at: 1-800-933-6679

About registration

Registration is a two-step process. In the first step, you will provide AXYS with important information for the conference such as the information that will appear on your conference badge and your childcare needs, if any. Upon completion of this step, you will be redirected to a page where you will select your ticket type and quantity, then enter your payment information.

Please be aware that if you do not complete the entire process before closing or navigating away from any of the registration pages, you will not be able to resume where you left off and will have to enter all information again.

Rick Frith2025-01-17T16:16:45-05:00Tags: 2019 AXYS Family Conference|

AXYS Awarded Grant to Develop Adult Specialty Clinics

Many adults with X and Y chromosome variations experience difficulty in finding adult specialists familiar with the range of medical issues that affect them into adulthood. For many adults, there are a range of endocrinology disorders, neurological complications, and autoimmune disorders that affect their health. Many have continuing problems with psychiatric complications, autism spectrum disorders, and learning disabilities. Of approximately 500 annual calls and e-mails to the AXYS help line, 20 percent request assistance in finding medical professionals who can provide specialty consultation and treatment recommendations for adults for their primary care physicians. In addition, many families have difficulty in obtaining medical documentation required to access disability services or receive appropriate workplace accommodations. While pediatric programs have experience with providing multi-disciplinary care, adult clinics find more difficulty in coordinating multi-disciplinary care.

On October 15, 2018, AXYS was notified by the WITH Foundation that it would receive funding to work collaboratively with the staffs of the AXYS Clinic & Research Consortium members at Children’s Hospital Colorado outside of Denver and Emory University Medical Center in Atlanta to help establish adult specialty clinics. These clinics will be family-centered and include multi-specialty evaluations that can document medical and neuro-developmental barriers to successful employment so that this large population of adults, most of whom can work at least part time, can receive necessary workplace accommodations and supports. In addition, the evaluations will allow adults with X and Y variations to more easily access public programs that promote their ability to live independently. Creating model evaluation templates will also be a goal of the clinics.

AXYS is honored to have received this funding and looks forward to getting started on this critical project.

Please see the official press release from WITH

Rick Frith2023-08-24T12:48:12-04:00Categories: All Variations|Tags: AXYS News|

New Research Project: How Families Experience an X & Y Chromosome Variation Diagnosis

The Family Experiences and Attitudes on Diagnosis and Support (FEADS) Study is STILL OPEN!

This study is open to individuals and parents of individuals who have received a diagnosis of an X & Y Chromosome Variation, before birth or as a child or adult. If you haven’t done so already, please consider sharing your experience with researchers from Mayo Clinic and Emory University. We hope that these results will help us improve the diagnosis process.

The study involves answering questions in an online survey that will take approximately 15-20 minutes of your time.

Megan Allyse, PhD from The Mayo Clinic in collaboration with Sharron Close, PhD from Emory University are recruiting volunteers from the X & Y Chromosome Variation Community to participate in this study.

Participate in the study

Rick Frith2018-10-15T12:07:35-04:00Categories: All Variations|

Exciting Leadership Changes to Support AXYS’s Goals

by Gary Glissman

AXYS has a new and, for the first time ever, full-time Executive Director! After a multi-month recruitment and interview process, the AXYS Board of Directors was pleased to offer the position to Carol Meerschaert who began her new role on October 7. (See Carol’s message in the upcoming fall newsletter from AXYS, later this month.)

The recruitment process was led by Robert Miller who has served as the part-time AXYS interim Executive Director for the past two and a half years. As planned, Robby will return to his original role with AXYS where he will concentrate on developing the AXYS Clinic & Research Consortium and other strategies to further the goals of the organization.

Carol brings considerable experience to AXYS including time as president of a small biotech company, Executive Director of the Massachusetts Dietetic Association, and work with the Healthcare Businesswomen’s Association. From a pool of 34 applicants, Carol impressed the Board’s recruitment team with her clarity of vision, her relevant skills, and her sincerity. You will learn more about her in the weeks to come. We are excited to have her on the AXYS team.

This is a huge step for AXYS. Establishing a full-time role in this critical position will allow us to better focus our time and energies on the multiple and demanding objectives that we know are important to the X and Y variation community. The Board looks forward to working side-by-side with Carol to implement many expanded services and new initiatives in the years to come.

We also wish to thank Robby for providing steady leadership, and for the many positive changes he has brought about during his tenure as the Executive Director (see this link for some of those accomplishments.) This list does not include internal improvements that involved strategic direction, operational efficiencies, and improving our financial status. We are grateful for his continuing presence with AXYS to work with Carol, and as our Director of Clinic and Strategic Initiatives.

Finally, many thanks to all of you who continue to be involved with AXYS through financial support, volunteer time, participation in support groups, social media pages, and much more. We have come a long way in recent years but still have many things to accomplish and with your continued help and interest we will see even more success. Please join me in welcoming Carol to our AXYS family!

Rick Frith2019-03-23T17:01:00-04:00Categories: All Variations|Tags: AXYS News|

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