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AXYS - The Association for X&Y Chromosome Variations

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Clothing for Kids Who Have Sensory Issues

Some children have severe sensory issues.  There are many resources for special clothing for these children.  These two sources were recommended by a mom.

Her comment:  “Here are a couple of links to some places that sell shirts with NO TAGS, and FLAT SEAMS and socks WITH NO SEAMS!”

http://www.softclothing.net/
http://www.sensorystorecanada.com/  (Note:  This resource may be temporarily unavailable–“closed for renovations” 8/4/11)

Important Note:  AXYS does not endorse or vet resources of this type.  We do not receive any compensation for posting these links, nor do we get any portion of their sales.  They are shared simply as an FYI.  Please shop carefully.

2016-11-11T02:42:37-05:00Categories: All 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.

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2018-07-09T17:06:37-04:00Categories: 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.

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2018-07-09T17:10:53-04:00Categories: 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).

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2018-09-25T12:03:51-04:00Categories: 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.

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2018-09-06T12:19:54-04:00Categories: 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Letter to the Editor: In response to Wall Street Journal and NY Times

In response to:
“New Tests for Newborns, And Dilemmas for Parents” by Amy Dockser Marcus
Wall Street Journal, July 26, 2011

“Test Can Tell Fetal Sex at 7 Weeks, Study Says” by
NY Times, August 9, 2011

AXYS submitted this letter to the editor:

“AXYS serves individuals who have one of the most prevalent and yet confoundingly unknown genetic conditions, sex chromosome aneuploidy.  The most common of these conditions is 47,XXY, also known as Klinefelter Syndrome. There are many other aneuploidies, affecting 1 in 500 males and females in total.  Life is certainly worth living for these individuals.  Early diagnosis leads to effective interventions that vastly improve lives, yet the majority of individuals with these conditions go undiagnosed for years—even a lifetime.  Misdiagnosis and resulting mistreatment are common and lead to unwarranted suffering.  One man spent 52 years diagnosed with bipolar disorder only to discover by accident he is 47,XXY.  He was transformed from suicidal to exuberant when he received the right treatments.  Undiagnosed individuals are susceptible to myriad comorbid conditions, such as heart disease and cancers, which can strike by surprise.  Those with an accurate diagnosis can watch for and address these problems before they become life-threatening. AXYS strongly urges rapid development and deployment of early diagnostic testing to detect these conditions.  In the case of X and Y chromosome variations, ignorance most definitely is NOT bliss.”

Please support our effort by submitting your letter to the Wall Street Journal at these two email addresses:

2017-09-23T15:23:52-04:00Categories: All Variations|

Dear Abby, Dear Abby..

AXYS was founded on the response to a letter to Ann Landers sent by our founder, Melissa Aylstock.  David Drexler, a long-time volunteer with AXYS and member of our communications committee, has written a beautiful, compelling letter to Dear Abby.  Please write to Dear Abby and share your letter with us.

David’s letter:

Dear Abby,

I’m writing you today to alert your readers to chromosome anomalies that affect one in five hundred people, male and female. Although they are the most common of the chromosome anomalies they are also seldom diagnosed, most often by amniocentesis or in a fertility workup.

Every cell of a normal body has 23 pairs of chromosomes and on those chromosomes are the genes that control who and what we are. The sex chromosomes (23rd pair) dictate sex. A normal male has XY chromosomes and a normal female has XX. For reasons we don’t know, in some cases there are more than two sex chromosomes with an extra X, called 47,XXY or just XXY. There can also be more than two Xs and more than one Y for example trisomy X or 47,XXX.

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2018-07-09T17:20:08-04:00Categories: All 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.

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2017-11-22T14:27:40-05:00Categories: 47,XXY (Klinefelter)|
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