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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)|

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).

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2018-09-06T12:29:52-04:00Categories: 47,XXY (Klinefelter)|

Resource in Texas: Social Skills Classes for Children and Teens with Social Integration Differences

www.socialmotionskills.org/

From their website description:

We are 100% Social & Life Skills

  • We focus SOLELY on social skills training and learning of mainstream activities – for children and adolescents with social & learning deficits and autism spectrum disorders
  • We’re serious about social behavior modification. We offer the quantity and quality of practice sessions necessary to effectuate real change
  • We are your relentless persistence partner. Without a commitment to persistent practice, social skills will not be internalized
  • We are the only one. There is no other program like us in Houston or its surrounding areas.
2018-07-09T17:31:10-04:00Categories: All Variations|

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.

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2018-09-11T13:06:41-04:00Categories: 47,XXY (Klinefelter)|

AAP: Guideline Calls for Pre-K ADHD Evaluation

Article Title: AAP: Guideline Calls for Pre-K ADHD Evaluation

Author: Charles Bankhead

Date of Publication: October 16, 2011

Primary care physicians should begin evaluating children for attention deficit hyperactivity disorder (ADHD) at age 4 and continue through age 18, according to a new clinical guideline from the American Academy of Pediatrics.

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(You may need to setup a free MedPage Today account to view this article.)

2018-07-14T10:43:09-04:00Categories: All Variations|
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