47,XXY (Klinefelter)

I had started to put together a list of challenges from our family experiences plus things I had read on the forums over the past few years and wanted to share it with the group. You may find this helpful in talking with teachers and health professionals and may want to add more things that are specific to your son.

Challenges that can be associated with 47,XXY
Available as an MS Excel File (This is preferable, because you can add your notes or comments to it easily)
Also available as a PDF

-Gary Glissman

Article Title: Testosterone Deficiency

Author: E. Barry Gordon, MD

Date of Publication: 2006

Most people have heard of testosterone, but very few are aware of the diseases resulting from the hormone’s deficiency. This situation is not surprising. Testosterone is frequently in the news media either because of its energizing effect on our sexuality or, more commonly, because of its illegal overuse to enhance athletic performance. Because of this the hormone has taken on something of a sordid, sleazy, even illegal, aura.

The reason very few people are aware of the disease of testosterone deficiency is that no one talks about it. It’s been swept under the medical rug and kept there. Even most of the medical community know very little, if anything, about the scope and severity of this disease. Many don’t want to know about it. They are frightened by the myths and don’t want to be associated with the popular perceptions.

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Article Title: Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

Authors: K. Steinman, J. Ross, S. Lai, A. Reiss, F. Hoeft

Date of Publication: December 15, 2009

Highly technical article that looks at various research studies associated with neurobiology and neuroimaging of 47,XXY brains. Could be a useful article for discussions with medical professionals interested in the underlying neuroanatomy involved with XXY. Also could be helpful for situations involving the legal system where it is important for the court to understand the neurobiological differences that can be present in XXY.

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Article Title: The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetic and Hormonal Factors

Authors: Nicole Tartaglia, Richard Boada, Jennifer Janusz, Christa Hutaff-Lee

Date of Publication: December 15, 2009

“Klinefelter syndrome (KS) or 47,XXY occurs in 1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems. In addition to medical findings, the presence of the extra X chromosome can lead to characteristic cognitive and language deficits of varying severity. While a small, but significant downward shift in mean overall IQ has been reported, the general cognitive abilities of patients with KS are not typically the intellectual disability range. Most studies support that males with KS have an increased risk of language disorders and reading disabilities.Results of other studies investigating the relationship between verbal and nonverbal/spatial cognitive abilities have been mixed, with differing results based on the age and ascertainment method of the cohort studied. Executive function deficits have been identified in children and adults with KS, however, the research in this area is limited and further investigation of the neuropsychological profile is needed. In this article, we review the strengths and weaknesses of previous cognitive and neuropsychological studies in males with KS in childhood and adulthood, provide historical perspective of these studies, and review what is known about how hormonal and genetic factors influence cognitive features in 47,XXY/KS.”

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Article Title: Mother labored to find reason for son’s developmental delays

Author: Sandra G. Boodman (The Washington Post)

Date of Publication: August 24, 2010

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Article Title: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1

Authors: Harry F. Klinefelter, Edward C. Reifenstein, Fuller Albright

Date of Publication: 1942

This is the abstract from the original medical journal article published by Harry Klinefelter in 1942 that described the Klinefelter Syndrome (not to be confused with 47,XXY).

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Article Title: Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example

Authors: Amy Simone Herlihy, Jane Halliday, Rob I. McLachlan, Megan Cock, Lynn Gillam

Date of Publication: March 29. 2010

Abstract:

Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.

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