“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.
“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.
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.
Article Title: Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies
Authors: David S. Hong and Allan L. Reiss
Date of Publication: March 2014
Presentation video/slides from the September 2017 meeting of the AXYS Southeastern Support Group, Atlanta, Georgia
Presented by Heather Nadler and Mark Biernath
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