47,XXY (Klinefelter) Archives - Page 13 of 20 - The Association for X and Y Chromosome Variations

Neurocognitive research on 47,XXY

Title: Neurobehavioral and Psychosocial Issues in Klinefelter Syndrome

Authors: Daniel H. Geschwind and Elisabeth Dykens

Date of Publication: 2004

This is one of the “gold standard” research articles on 47,XXY neurocognitive implications. It contains pretty intense medical terminology but it would be recognized as excellent resource/reference material by physicians, educators, the courts, etc. It should help parents and others understand there are absolutely biological issues involved with potential problem behaviors that may be happening with someone that is 47,XXY.

Rick Frith2018-07-09T17:06:37-04:00Categories: 47,XXY (Klinefelter)|

Comparing 47,XXY and 47,XYY boys

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: December 2009

A research article on comparing the similarities and differences in boys with 47,XXY and 47,XYY from a neurocognitive testing standpoint.

Rick Frith2018-07-09T17:10:53-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

Complexities of Hypogonadism

Article Title: Complexities of Hypogonadism

Author: Dr. Poochellam Muthalagu

Date of Publication: June 30, 2011

Dr. Poochellam Muthalagu looks at the primary and secondary reasons for hypogonadism and examines the different treatments available in this country.

Male hypogonadism is a clinical syndrome defined by low testosterone levels associated with sexual dysfunction, particularly diminished libido, mood disturbances, reduced lean body mass and increased adipose tissue mass.

A wide range of effective and well-tolerated treatment options exist. These include testosterone (T) gels and T patches. There is also a mucoadhesive sustained-release buccal tablet, but this is not available in Ireland. Intramuscular testosterone injections and subcutaneous depot implants (T pellets) are still the standard therapy.

Testosterone replacement therapy (TRT) can be individualised to enhance patient health and wellbeing. Screening and ongoing monitoring are necessary to ensure both the efficacy and safety of TRT, particularly prostate safety. Investigational agents, including selective androgen receptor modulators, may offer new pharmacodynamic and/or pharmacokinetic properties that enhance outcomes of TRT.

Male hypogonadism is defined as the failure of the testes to produce androgen, sperm or both. Although the disorder is exceedingly common, its exact prevalence is uncertain.

Testosterone production declines with advancing age; some 20 per cent of men older than 60 years and 30-40 per cent of men older than 80 years have serum testosterone levels that would be subnormal in their younger adult male counterparts.

This apparent physiologic decline in circulating androgen levels is compounded in frequency by permanent disorders of the hypothalamic-pituitary-gonadal axis. These include the transient deficiency states associated with acute stressful illnesses, such as surgery and myocardial infarction, and the more chronic deficiency states associated with wasting illnesses, such as cancer and acquired immunodeficiency syndrome (AIDS).

Rick Frith2018-09-25T12:03:51-04:00Categories: 47,XXY (Klinefelter)|

Klinefelter Syndrome and Other Sex Chromosomal Aneuploidies

Article Title: Klinefelter syndrome and other sex chromosomal aneuploidies

Author: Jeannie Visootsak and John M. Graham Jr.

Date of Publication: October 24, 2006

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

Rick Frith2018-09-06T12:19:54-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Bone Density

We rarely use Wikipedia as a resource, but this overview on bone density is quite well done. As with any medical issue or question, please consult your physician. The Wikipedia entry is a general discussion of the topic. It is not specifically related to X and Y Chromosome Variations. For individuals who are 47,XXY, untreated hypogonadism can lead to osteoporosis and osteopenia. Most benefit from testosterone replacement therapy (TRT). Those who identify as intersex or choose not to use TRT should seek competent medical help for alternative methods to preserve bone density.

Rick Frith2017-11-22T14:27:40-05:00Categories: 47,XXY (Klinefelter)|

Gender Considerations with 47,XXY

Article Title: Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

Authors: A.S. Herlihy, L. Gillam

Date of Publication: March 2011

www.ncbi.nlm.nih.gov/pubmed/21453406

International Journal of Andrology ｪ 2011 European Academy of Andrology, 1–2

A common genetic condition affecting males, Klinefelter syndrome (KS), is often described as ‘The Forgotten Syndrome’.Although the prevalence of KS has been estimated to be as high as 1 in 450 (Herlihy et al., in press.), between 50 and 70% of males are never diagnosed (Bojesen et al.,2003). Klinefelter et al., 1942 first described KS as a syndrome in males, characterized by tall stature with eunuchoidal body proportions, gynaecomastia, small testes,hypogonadism, azoospermia and increased FSH levels(Klinefelter et al., 1942). The cause of this syndrome was identified 17 years later as an additional X chromosome in males, resulting in a 47, XXY karyotype (Jacobs & Strong,1959). Since then, there have been many advances in research concerning the biomedical aspects of KS, in addition to the cognitive and neuropsychological features,providing a greater understanding of the variety of behavioural, learning and psychological difficulties that may be present (Bojesen & Gravholt, 2007).

Rick Frith2018-09-06T12:29:52-04:00Categories: 47,XXY (Klinefelter)|

Challenge List

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

2016-11-11T02:53:15-05:00Categories: 47,XXY (Klinefelter)|

Testosterone Deficiency

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.

Rick Frith2022-03-10T09:44:15-05:00Categories: 47,XXY (Klinefelter)|

Prevalence and Psychosocial Correlates of Depressive Symptoms Among Adolescents and Adults with Klinefelter Syndrome

Article Title: Prevalence and Psychosocial Correlates of Depressive Symptoms among Adolescents and Adults with Klinefelter Syndrome

Authors: Amy Turriff, ScM, Howard P. Levy, MD, PhD, and Barbara Biesecker, PhD, MS

Date of Publication: November, 2011

“Individuals with XXY may be at increased risk for depression. Routine screening for depressive symptoms and appropriate referral and evaluation may be warranted.”

Rick Frith2018-09-08T20:27:13-04:00Categories: 47,XXY (Klinefelter)|

Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome

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.

Rick Frith2018-07-14T10:59:30-04:00Categories: 47,XXY (Klinefelter)|