Thanks to the generosity of the book’s author, Virginia Isaac’s Cover, MSW, AXYS is pleased to make this book available to the X and Y variation community, in its entirety, at no cost. Please feel free to download and/or print it for your personal use. (Those wishing to purchase a soft-bound copy can do so at Amazon or Kindle. All proceeds from the sale of this book benefit AXYS.)
“The Klinefelter Syndrome: Current Management and Research Challenges”—From the scientific journal, Andrology, this article summarizes the concluding “Round Table Discussion” of the 2nd International Workshop on the Klinefelter Syndrome in Munster, Germany, March, 2016. Topics include syndrome characteristics, centers of competence for diagnosis and treatment, counseling, support groups, early screening, fertility, testosterone treatment, and basic research. Click here.
See also: “Speaker Abstracts from the 2nd International Workshop on Klinefelter Syndrome March 2016 Münster, Germany.”
“Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome”—This nearly 30-page story in the journal Advances in Pediatrics is directed at pediatricians and family physicians who treat children, and who may thus come across patients with Klinefelter syndrome. It alerts them to the risks the condition carries for neurodevelopmental and psychological complications, and suggests that diagnosis rates are likely to spike sharply upward given advances in genetics and prenatal neonatal screening. Click here.
“Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis” —This cross-sectional study was published in the American Journal of Medical Genetics. It describes the diagnosis, physical aspects, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Click here.
“The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults” — This research article examines the medical, psychological, and social challenges that arise in individuals with 47,XXY as well as providing practical recommendations for parents and professionals on how to meet these challenges. Click here.
See the link below for an archive of informative webinars featuring presentations by professionals in various fields relating to X and Y chromosome variations:
The following medical professionals have agreed to serve on the AXYS Professional Advisory Committee (PAC), charged with advising the AXYS board and staff on an as-needed basis:
Sharron Close, PhD (Chair), Emory University
Ricki Lewis, PhD, Adjunct Professor of Medical Education, Alden March Bioethics Institute, Albany Medical College
Susan Howell MS, CGC, MBA, Genetic Counselor and Coordinator, The eXtraordinarY Kids Clinic, Colorado Children’s Hospital
Jeannie Visootsak, MD, Developmental Pediatrician
Nicole Tartaglia, MD, Associate Professor, University of Colorado Medical School
Amy Talboy, MD, Emory University Department of Human Genetics
Sheryl Rimrodt, MD, Developmental Pediatrician
Ilene Fennoy, MD, MPH, Professor, Columbia University School of Medicine
Judith Ross, MD, Professor, Thomas Jefferson School of Medicine, Columbia University School of Medicine
Alan Rogol, MD, Pediatric Endocrinology University of Virginia (retired)
Adrian Dobs, MD, Professor, Johns Hopkins University School of Medicine
Robyn Robinson, CPNP-PC, Pediatric Nurse Practitioner and Parent/Advocacy Leader
Allan Reiss, MD, Robbins Professor and Director, Stanford University Center for Interdisciplinary Brain Sciences Research
Arlene Smaldone, PhD, CPNP-PC, Assistant Dean of Scholarship and Research, Columbia University School of Nursing
Lois Sadler, PhD, PNP-BC, FAAN Professor, Yale School of Nursing
Virginia Cover, MSW, MPH, Social Worker, Parent and Author
Eric Viliain, MD, PhD, Professor of Human Genetics, Pediatrics and Urology, University of California, Los Angeles
Kristy Martyn, PhD, PNP-PC, FAAN Professor of Nursing, Nel Hodgson Woodruff School of Nursing
David Marcus, PhD, Assistant Professor Neuropsychology Emory University
Title: IDEA – The Manual for Parents and Students About Special Education Services in Texas
Date of Publication: September 2011
Article Title: Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study
Authors: Anthony Swerdlow, Craig Higgins, Minouk Schoemaker, Alan Wright, and Patricia Jacobs
Date of Publication: December 1, 2005
“Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.”
