Article Title:Β It’s not all about the testes: medical issues in Klinefelter patients
Author: Rebecca Z. Sokol, MD, MPH. Β Published in the American Society for Reproductive Medicine
Date of Publication: 2012
Excellent review of the medical issues associated with KS (XXY).
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.Β Some scientists prefer the use of the term “transgender” to describe individuals with 47,XXY who do not identify as male.Β “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.
Article Title:Β Gambling Addiction Explained?
Author: Deborah Brauser
Date of Publication: October 30, 2012
Gambling Addiction research report from theΒ 25th European College of Neuropsychopharmacology (ECNP) Congress.
Very interesting research on compulsive gambling. May have direct implications for some of the continued impulsive behavior activities sometimes seen with XXY and other SCA conditions. Also note the author’s comment at the end…he seems to feel cognitive behavior therapy and building other brain connectivity is the better treatment approach versus expecting drugs to “fix” things.
-Gary (Chair, AXYS Board of Directors)
VIENNA, Austria β Pathological gamblers may have abnormally increased reward expectancy, making them “overoptimistic with regard to gambling outcomes,” new research shows.
Investigators at the Amsterdam Institute for Addiction Research, in the Netherlands, used functional magnetic resonance imaging (fMRI) to assess brain activity in 15 participants with gambling problems and 16 without. They found that those with a gambling addiction had significantly more activation in the brain’s reward areas than those without.
“When the brain responds to a higher degree to potential rewards, it may trigger increased propensity to gamble,” coinvestigator Anna E. Goudriaan, PhD, told attendees here at the 25th European College of Neuropsychopharmacology (ECNP) Congress.
The database of CHROMOSOMAL VARIATION IN MAN consists of a systematic collection of important citations from the world’s literature reporting on all common and rare chromosomal alterations, phenotypes, and abnormalities in humans. The database is organized by variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. It contains over 24,000 entries updated continuously since 1974.
Compassionate Allowances Program Provides Expedited Disability Review for Patients with Severely Disabling Diseases
Some individuals with X and Y chromosome variations qualify for Social Security benefits for disability. It’s no surprise that the Compassionate Allowances Program does not list X and Y chromosome variations as qualifying conditions.Β This will not apply to many, but for those who have other severely disabling conditions in addition to their X and Y chromosome variation, you may find help here.
From NORD’s press release:
Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), today praised Social Security Commissioner Michael Astrue and his staff for proactively establishing and expanding a program that “demonstrates true compassion for Americans with seriously disabling rare diseases.”
Saltonstall made his remarks at a Capitol Hill event at which Commissioner Astrue announced the addition of 35 diagnoses, several of which are rare, to the Compassionate Allowances Program.Β This is a program established by the Commissioner and his staff to quickly identify diseases that meet Social Security disability standards so that patients with devastating diseases may receive their benefit decision within days rather than months or years.
The program is especially important for people with rare diseases that are not well known or widely understood, Saltonstall said.
“As the president of NORD, I represent the 30 million Americans with rare diseases, as well as their families and caregivers,” he noted.Β “Rare diseases tend to be severe and chronic, and many people affected by these diseases struggle with overwhelming medical and financial challenges.”
…The program doesn’t guarantee approval for disability benefits but rather an expedited review so that individuals with diagnoses on the list receive fast-track review and are notified of the final decision within days rather than months or years.
Read more
Video that illustrates the process of nondisjunction:Β click here.
Article Title:Β Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders
Authors:Β Nancy Raitano Lee, Gregory L. Wallace, Elizabeth I. Adeyemi, Katherine C. Lopez, Jonathan D. Blumenthal, Liv S. Clasen, and Jay N. Giedd
Date of Publication: 2012
Article Title: Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder
Authors: Nancy Raitano Lee, Gregory L. Wallace, Liv S. Clasen, Rhoshel K. Lenroot, Jonathan D. Blumenthal, Samantha L. White, Mark J. Celano, and Jay N. Giedd
Date of Publication: February 2011
Abstract:Β Deficits in executive function (EF) are reported to occur in individuals with Klinefelter syndrome (XXY). The degree of impairment, if any, is variable and the nature of these deficits has not been clearly elucidated in young males. In this report, we (a) examine EF skills using multiple tasks in a non-clinic referred group of youth with XXY, (b) describe the extent of EF weaknesses in XXY when this group is compared with typical males of a similar SES or typical males with similar verbal abilities, and (c) evaluate the contribution of comorbid attention-deficit/hyperactivity disorder (ADHD) to EF skills. The sample included 27 males with XXY (ages 9β25), 27 typically developing age- and vocabulary-matched males, and 22 age- and socioeconomic status-matched males. EF tasks included Verbal Fluency, the Trail Making Test, and the CANTAB Spatial Working Memory and Stockings of Cambridge tasks. Mixed model analysis of variance was used to compare the groups on EF tasks and revealed a main effect of group but no group by task interaction. Overall, the XXY group performed less well than both control groups, but performance did not differ significantly as a function of task. ADHD comorbidity in males with XXY was related to poorer EF skills.
The mission of the Klinefelter Center:Β To provide compassionate and comprehensive medical and surgical care for XXY males by medical professionals with expertise in the various aspects of Klinefelter Syndrome. Services are available for all ages from young boys to adult men.
Click here for brochure.
Click here for clinic website.
Dr. Adrian Dobs, head of the clinic, has produced a webinar for AXYS and she has presented at conferences.
Ann Szalda-Petree interviews intersex activists Jim Bruce and Eden Atwood about living life with an intersex condition. Eden and Jim highlight the social and medical oppression people with intersex conditions have traditionally received, as well as provide hope for change in the future.
