47,XXY (Klinefelter) Archives - Page 12 of 20 - The Association for X and Y Chromosome Variations

XXY Update – Fall, 2017

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.

Early Male Fertility Preservation Program for X and Y Variations

Presentation slides from the 2017 AXYS Family Conference presentation:

Early Male Fertility Preservation Program for X and Y Variations (PDF)

Presented by Hooman Sadri-Ardekani, MD, PhD

Rick Frith2020-03-16T12:52:02-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|Tags: 2017 Conference, Fertility|

Testosterone Therapy for Individuals with Sex Chromosome Aneuploidies

Presentation slides from the 2017 AXYS Family Conference presentation:

Testosterone Therapy for Adolescents/Adults with Sex Chromosome Aneuploidies: What’s Available and What’s New? (PDF)

Presented by Alan D. Rogol, MD PhD

Rick Frith2022-02-16T12:54:07-05:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|Tags: 2017 Conference, Testosterone treatment|

Male Fertility in X & Y Variations

Presentation slides from the 2017 AXYS Family Conference presentation:

Male Fertility in X and Y Variations: Current State-of-the-Art and Future Implications (PDF)

Presented by Akanksha Mehta, MD MS

Rick Frith2020-03-16T12:53:53-04:00Categories: 47,XXY (Klinefelter)|Tags: 2017 Conference, Fertility|

Metabolic Syndrome in 47,XXY

Presentation slides from the 2017 AXYS Family Conference presentation:

Metabolic Syndrome in 47,XXY (PDF)

Presented by Bahareh Michelle Schweiger, DO, MPH

Rick Frith2017-07-24T12:18:47-04:00Categories: 47,XXY (Klinefelter)|Tags: 2017 Conference|

Brain And Behavioral Development In Klinefelter Syndrome

Presentation slides from the 2017 AXYS Family Conference presentation:

Brain And Behavioral Development In Klinefelter Syndrome (PDF)

Presented by Alan Reiss, MD

Rick Frith2017-07-22T16:46:34-04:00Categories: 47,XXY (Klinefelter)|Tags: 2017 Conference|

Thinking About Starting Testosterone for XXY/XXYY/XXXY

Presentation slides from the 2017 AXYS Family Conference presentation:

Thinking About Starting Testosterone for XXY/XXYY/XXXY (PDF)

Presented by Shanlee Davis, MD, MSCS

Rick Frith2022-02-16T12:53:23-05:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|Tags: 2017 Conference, Testosterone treatment|

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.

Rick Frith2022-02-17T13:35:25-05:00Categories: 47,XXY (Klinefelter)|

Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study

Article Title: Mortality in Patients with Klinefelter Syndrome in Britain: A Cohort Study

Authors: Anthony Swerdlow, Craig Higgins, Minouk Schoemaker, Alan Wright, and Patricia Jacobs

Date of Publication: December 1, 2005

“Patients diagnosed with Klinefelter syndrome have raised mortality from several specific causes. This may reflect hormonal and genetic mechanisms.”

An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

Article Title: An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome

Authors: Judith L. Ross, Martha P.D. Zeger, Harvey Kushner, Andrew R. Zinn, and David P. Roeltgen

Date of Publication: 2009

“The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders.”