Authors: Nicole Tartaglia, Shideh Majidi, and Shanlee Davis
Date of Publication: 2018
“This study aims to address the question of whether exogenous testosterone during the expected mini-puberty period of infancy in boys with KS has beneficial short-term effects on body composition and development.”
Article Title: Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype
Authors: Ryan Flannigan, MD, Premal Patel, MD, and Darius A. Paduch, MD, PhD
Date of Publication: October 2018
“Our findings indicate that early androgen supplementation in children with KS combined with specific educational, family, and social support improves behavioral functioning. The optimal timing of hormonal therapy might require prospective studies, but based on our data and review of the literature, the benefit of early hormonal and therapeutic intervention in KS is very encouraging.”
Article Title: Oxandrolone yields short-term benefits in treating Klinefelter’s syndrome
Authors: S.M. Davis, M. Cox-Martin, M. Bardsley, K. Kowal, P.S. Zeitler, and J.L. Ross
Date of Publication: November 14, 2016
” ‘The result of a 2-year, double blind, placebo-controlled trial of oxandrolone in boys with Klinefelter’s syndrome yields modest benefits in some cardiometabolic markers, including percent body fat SDS and fasting triglycerides; however, oxandrolone notably decreased HDL cholesterol and results in mild bone age advancement,’ the researchers wrote. ‘Overall, the short-term cardiometabolic effects of oxandrolone in prepubertal boys with Klinefelter’s syndrome are beneficial; however, additional studies are needed to understand the effect of oxandrolone on long-term cardiometabolic health.’ ”
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.”
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.”
Article Title: Positive Effects of Early Androgen Therapy on the Behavioral Phenotype of Boys with 47,XXY
Authors: Carole Samango-Sprouse, Emily J. Stapleton, Patrick Lawson, Francie Mitchell, Teresa Sadeghin, Sherida Powell, and Andrea L. Gropman
Date of Publication: 2015
“This is now the third study (two being within the same cohort of boys with 47, XXY and the other being in a cohort of boys with 49, XXXXY) to reveal positive effects of early androgen replacement on the neurodevelopment of boys with X- chromosome aneuploidies.”
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.”
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, 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.
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.
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!