Library - Page 17 of 34 - The Association for X and Y Chromosome Variations

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, David P. Roeltgen, Harvey Kushner, Andrew R. Zinn, Allan Reiss, Martha Zeger Bardsley, Elizabeth McCauley, and Nicole Tartaglia

Date of Publication: April 2012

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.

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Article Title: 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Authors: Martha Zeger Bardsley, Karen Kowal, Carly Levy, Ania Gosek, Natalie Ayari, Nicole Tartaglia, Najiba Lahlou, Breanna Winder, Shannon Grimes, and Judith L. Ross

Date of Publication: May 2013

“The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.”