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)|

Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies

Article Title: Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies

Authors: David S. Hong and Allan L. Reiss

Date of Publication: March 2014

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Categories: All Variations|

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

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|