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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

Yearly Archives: 2016

Postnatal screening for XXY (Klinefelter Syndrome)

Article Title: Postnatal screening for Klinefelter syndrome: is there a rationale?

Authors: Amy S. Herlihy, Lynn Gillam, Jane L. Halliday, Robert I. McLachlan

Date of Publication: December 27, 2010

“Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population-based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.”

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2018-09-28T11:36:23-04:00Categories: 47,XXY (Klinefelter)|

Assessing the Risks and Benefits of Diagnosing Genetic Conditions through Population Screening

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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2018-07-14T13:54:47-04:00Categories: 47,XXY (Klinefelter)|

Prevalence of Klinefelter Syndrome (XXY) in Australia

Article Title: The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison

Authors: Amy S. Herlihy, Jane L. Halliday, Megan L. Cock, Robert I. McLachlan

Date of Publication: January 3, 2011

“A mean prevalence for KS of 152 per 100,000 male births was estimated from newborn screening programs in the 1960s and 1970s in several countries, including Denmark, the United States, Canada, Japan,and the United Kingdom. Despite this high frequency, and features such as small testicles in adulthood, it has been estimated that less than 10% of the estimated number of affected fetuses are detected prenatally, and only 26% of live-born cases are diagnosed postnatally. A birth prevalence for KS of 153 per 100 000 males in Denmark has been estimated using population information and adjusting the prenatal prevalence for maternal age, as KS is an incidental finding of prenatal karyotype tests that are more commonly performed in older mothers. Comparison with postnatal diagnoses confirmed that only 25% of KS cases are detected. The low diagnosis rate suggests most males with KS will not receive potentially beneficial treatments, especially androgen therapy. Most adult diagnoses occur during fertility assessment, beyond the ideal point for intervention. Detection in childhood and timely intervention may be essential for optimal medical and psychosocial outcomes in adulthood.”

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2018-09-28T11:40:20-04:00Categories: 47,XXY (Klinefelter)|

Social Function in Multiple X and Y Conditions

Article Title: Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY

Authors: Jeannie Visootsak, John M. Graham, Jr.

Date of Publication: September 2, 2009

Abstract:

Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.

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2018-07-14T14:01:58-04:00Categories: All Variations|

Executive Function Skills and School

Article Title: Executive Function…What is this anyway?

Author: Chris A. Zeigler Dendy, M.S.

Date of Publication: 2011

This article is not specific to X and Y conditions but it does present useful information about executive skills and how challenges in this area can impact kids in school.

Excerpt:
“Clearly school is often very difficult for students with attention deficits. However, when executive function deficits are also present, the accompanying problems are often overwhelming to the student and family. Unfortunately, some parents and teachers have had little awareness or sympathy for the challenges presented by these combined deficits. Hopefully, teachers and parents now realize that attention deficit disorder is often a very complex condition….when deficits in executive function and related learning problems are present, students can try their very best and still not succeed in school.”

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2018-07-14T14:08:56-04:00Categories: All Variations|

Language Delay in Boys? Consider Klinefelter Syndrome

Article title: Language Delay in Boys? Consider Klinefelter Syndrome

Author: Bruce Jancin, Family Practice News

Date of Publication: February 29, 2012

Report on presentation by Dr. Charlotte M. Boney, chief of the division of pediatric endocrinology and metabolism at Hasbro Children’s Hospital in Providence, R.I.

“Seventy-five percent of guys with Klinefelter syndrome aren’t diagnosed until they are adults. We are missing the opportunity to diagnose Klinefelter when we could actually intervene in a timely way to promote normal pubertal development…”

While Dr. Boney’s comments focus on 47,XXY, we believe this article is relevant to all X and Y chromosome variations because some of the developmental indicators Dr. Boney mentions affect all conditions.

Read more (requires registration or login with social media account)

2018-09-28T10:55:16-04:00Categories: 47,XXY (Klinefelter)|

ADHD Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY

Authors: Nicole R. Tartaglia, MD, Natalie Ayari, BA, Christa Hutaff-Lee, PhD, Richard Boada, PhD

Date of Publication: May 2012

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Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).

2022-02-25T17:06:05-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY|Tags: |

Bottled Water May Boost Kids’ Tooth Decay, Dentists Say

Children who have X and Y chromosome variations have more frequent dental problems.  Those who have 47,XXY, in particular, often have a dental condition called taurodontism, which makes them more prone to tooth decay and other problems.

There is a possible relationship between bottled water, which typically does not contain added fluoride, and an epidemic of tooth decay in young children. Municipal tap water, on the other hand, is typically fluoridated and offers protection against tooth decay.

If your child drinks bottled water, and if you have no objections to fluoridated water, you may wish to consider shifting to tap water in a refillable water bottle.  If you are concerned about the quality of your tap water, Consumer Reports recently published a comprehensive report offering a number of excellent choices for inexpensive, highly effective water filters – priced from $15, a cost that will be quickly offset by savings on bottled water, and you’ll be helping the environment in the process.

If you are concerned about bisphenol-A in some older plastic water bottles, there are numerous sources for inexpensive, BPA-free refillable water bottles.  Here’s a link on Amazon for illustrations:  amzn.to/HW7vBL

More Information:
CDC Information (revised)
Update  courtesy of TimberCrest Dental Center
NY Times Article
Study: Oral Health Improving for Most Americans, But Tooth Decay Among Preschool Children on the Rise

2018-07-14T14:38:12-04:00Categories: All Variations|

Movie Trailer – Intersexion

Some with 47,XXY question their gender identity. These individuals feel the influence of the extra X and do not feel as if they are male. These individuals may avoid therapy for hypogonadism…typically testosterone hormone replacement therapy…in favor of estrogen or no HRT at all.

Some with 47,XXY use the term “intersex” to describe how they feel. But some in the scientific community question their use of this term, because its scientifically accepted application applies to those born with ambiguous genitalia…not clearly male or female.  Some scientists prefer the use of the term “transgender” to describe individuals with 47,XXY who do not identify as male.  “Transgender” also carries sometimes confusing connotations.

Terminology aside, there is a significant number of individuals with 47,XXY who identify as a different gender. AXYS respects and embraces this diversity.

Meanwhile, there is a larger, worldwide conversation about intersex that is focused on those with ambiguous genitalia. Our friends in the intersex community asked that we share this movie trailer. It focuses on issues related to the one in 2000 individuals who are born with ambiguous genitalia.
Watch the trailer

We are happy to share.
Some of the birth images are explicit.

2018-07-21T21:23:24-04:00Categories: 47,XXY (Klinefelter)|
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