Library

/Library/

The Challenges of Klinefelter’s

“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.

Categories: 47,XXY (Klinefelter)|

A Klinefelter Update for Pediatricians

“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.

Categories: 47,XXY (Klinefelter)|

The Triple X Syndrome Phenotype

“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.

Categories: 47,XXX (trisomy x)|

Exploring Klinefelter Syndrome

“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.

Categories: 47,XXY (Klinefelter)|

Estate Planning for Individuals with Special Needs: An Introduction

Presentation video/slides from the September 2017 meeting of the AXYS Southeastern Support Group, Atlanta, Georgia

https://echo360.org/media/9da99351-82d9-4cdb-b9d5-88ea51f654b1/public

Presented by Heather Nadler and Mark Biernath

 

Categories: All Variations|

XXYY Sibling Project

Brothers and sisters of boys and men with XXYY share what it means to grow up with XXYY.

Watch the video

Categories: 48,XXYY|

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

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Categories: 47,XXY (Klinefelter)|

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

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Categories: 47,XXY (Klinefelter)|

Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

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

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Categories: 47,XXY (Klinefelter), 47,XYY|

XXY Update – Fall, 2017

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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:

    1. Adult issues related to neurocognitive challenges are complex, difficult and do not receive adequate research attention or effective care.
    2. There are very few places in the world that provide expert multidisciplinary treatment for XXY adults.
    3. Most KS adults have difficulty finding skilled, effective health care from health professionals that are aware of current research in KS.

Read more

Categories: 47,XXY (Klinefelter)|