“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.
“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.
“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.
Article Title: Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology
Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk
Date of Publication: February 09, 2018
A group of people representing AXYS and the Klinefelter Syndrome community traveled to Washington,
DC in early January 2018 to provide public comments at an FDA hearing related to the approval of a new
oral testosterone drug called Jatenzo.
The Clarus drug company has developed this oral pill as an alternative for men that require testosterone
replacement therapy (TRT). Currently the only options for TRT involve the use of gels, patches, injections
or pellet implants. All of these options have different challenges and difficulties that can cause some
men to become frustrated and stop following their recommended replacement plan. This can lead to
multiple physical and emotional difficulties for some KS individuals. We believe an oral alternative would
be easier for many people and would help them start and continue their TRT programs.
Quality of Life in Men with Klinefelter Syndrome: The Impact of Genotype, Health, Socioeconomics, and Sexual Function
Article Title: Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function
Authors: Anne Skakkebæk, MD, PhD, Philip J. Moore, MS, Simon Chang, MD, Jens Fedder, MD, PhD, and Claus H. Gravholt, MD, DMSc
Date of Publication: July 2017
The Role of Genes, Intelligence, Personality, and Social Engagement in Cognitive Performance in Klinefelter Syndrome
Article Title: The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome
Authors: Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Peter Laurberg, Jens Michael Hertz, John Rosendahl Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt
Date of Publication: December 2016
Article Title: Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome
Authors: Judith L. Ross, MD, David P. Roeltgen, MD, Harvey Kushner, PhD, Andrew R. Zinn, MD, PhD, Allan Reiss, MD, Martha Zeger Bardsley, MD, Elizabeth McCauley, PhD, and Nicole Tartaglia, MD
Date of Publication: April 2012
In case you have not had a chance to visit the AXYS website lately, several new research papers have been added in the library that you may want to review and also share with your health care providers and others. Two of these articles involve research by Dr. Claus Gravholt and his team at the Department of Endocrinology and Internal Medicine at Aarhus University Hospital in Denmark. This multidisciplinary clinic specializes in treating XXY individuals over the age of 15 and is one of the few clinics in the world that has that distinction. They see more than 400 adult patients with KS and have published a number of excellent research papers in the past based on their experiences.
Their latest publications focus on cognitive performance and quality of life issues associated with KS adults and they bring out many important points, including:
- Adult issues related to neurocognitive challenges are complex, difficult and do not receive adequate research attention or effective care.
- There are very few places in the world that provide expert multidisciplinary treatment for XXY adults.
- Most KS adults have difficulty finding skilled, effective health care from health professionals that are aware of current research in KS.
Presentation slides from the 2017 AXYS Family Conference presentation:
Presented by Hooman Sadri-Ardekani, MD, PhD