Article Title: Vocal and gestural productions of 24-month-old children with sex chromosome trisomies
Authors: Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti,Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, and Paola Vizziello
Date of Publication: January 2018
Article Title: Klinefelter syndrome: more than hypogonadism
Authors: George A. Kanakis and Eberhard Nieschlag
Date of Publication: February 4, 2018
Article Title: Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome
Authors: De‑Feng Liu, Lian‑Ming Zhao, Kai Hong, Jia‑Ming Mao, Yu‑Zhuo Yang, Zhe Zhang, Hui Jiang
Date of Publication: October 3, 2017
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 9, 2018
“Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role. For example, recent developments in genetics and genomics point to a fundamental change in our understanding of KS, with global epigenetic and RNA expression changes playing a central role for the phenotype.”
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
echo360.org/media/9da99351-82d9-4cdb-b9d5-88ea51f654b1/public
Presented by Heather Nadler and Mark Biernath
Brothers and sisters of boys and men with XXYY share what it means to grow up with XXYY.
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
“…relatively little attention has been paid to QoL in men with KS, or the factors that may determine it. In two studies to date, boys and men with KS were found to have a lower QoL than non-KS males in population-based samples. KS phenotype severity was also negatively associated with QoL among boys. In a third study, KS status was correlated with lower psychosocial well-being, which was associated with lower levels of employment and social support, and greater disease severity.”
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, and Claus Højbjerg Gravholt
Date of Publication: December 2016
“The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education.”
