47,XXY (Klinefelter) Archives - Page 20 of 21 - The Association for X and Y Chromosome Variations

Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Article Title: Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders

Authors: L.E. DeLisi, A.M. Maurizio, C. Svetina, B. Ardekani, K. Szulc, J. Nierenberg, J. Leonard, P.D. Harvey

Date of Publication: May 5, 2005

“Males with an extra-X chromosome (Klinefelter’s syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders.”

Rick Frith2018-08-13T13:45:33-04:00Categories: 47,XXY (Klinefelter)|

Testicular size and shape of 47,XYY and 47,XXY men in a double-blind, double-matched population survey

Article Title: Testicular size and shape of 47,XYY and 47,XXY men in a double-blind, double-matched population survey

Author: E. Boisen

Date of Publication: November 1979

“This paper reports the testicular size and shape of 12 men with 47,XYY, 14 men with 47,XXY, and 52 matched controls with 46,XY. The abnormal karyotypes were identified in a systematic population search for XYY and XXY men. The subjects and their matched controls were examined in a double-blind fashion. The testes of the XYY men showed no significant differences from those of their XY controls for volume or shape. This indicates that previous reports of abnormal testes in XYYs reflect selection and publication bias and do not provide an accurate description of the condition of 47,XYY men’s testicles. As expected, the testes of the XXY men were significantly smaller than those of their XY controls, and there was also a difference in shape. However, the mean size in this sample of XXYs was larger than in previous reports on Klinefelter syndrome patients, indicating that previous reports on XXYs, identified in clinics for male hypogonadism and other institutions, also suffered from selection bias.”

Rick Frith2018-08-17T16:39:54-04:00Categories: 47,XXY (Klinefelter), 47,XYY|

FDA Panel Rejects New Oral Testosterone Replacement Drug

Article Title: FDA Panel Rejects New Oral Testosterone Replacement Drug

Author: Larry Hand

Date of Publication: September 18, 2014

A combined US Food and Drug Administration (FDA) advisory committee has voted against recommending approval of oral testosterone undecanoate (TU) gel capsules as testosterone-replacement therapy (TRT).

In a joint session today of the Bone, Reproductive and Urologic Drugs Advisory Committee and the Drug Safety and Risk Management Advisory Committee, panelists voted 12 to 8, with 1 abstention, that there is insufficient evidence to conclude that the testosterone prodrug is effective. They voted 18 to 3 that the overall benefit/risk profile was not acceptable to support approval.

Rick Frith2018-08-17T16:51:03-04:00Categories: 47,XXY (Klinefelter)|

The Learning Needs of Boys With KS – Information for Teachers & Parents

Article Title: The Learning Needs of Boys With KS – Information for Teachers & Parents

Authors: Paul Collingridge, Klinefelter’s Syndrome Association (UK)

Date of Publication: 2004

“Recent years have seen the tide turning in the ways that boys with Klinefelter’s Syndrome (KS) have settled down at school, this is reflected in the statistics of the Klinefelter’s Syndrome Association survey which pointed out that whilst virtually no adults had attended special schools as children, the figure had risen to around 1 in 3 by 1999. There is still a long way to go; many parents still feel the frustration of battling out for help against cash-strapped education authorities, and many teachers long for insight into the minds of boys with complex needs.”

Rick Frith2018-09-06T12:44:12-04:00Categories: 47,XXY (Klinefelter)|

Long-Term Testosterone Therapy Does Not Increase the Risk of Prostate Cancer

Article Title: Long-term testosterone therapy does not increase the risk of prostate cancer

Author: Elsevier Health Sciences

Date of Publication: November 25, 2014

“Testosterone (T) therapy is routinely used in men with hypogonadism, a condition in which diminished function of the gonads occurs. Although there is no evidence that T therapy increases the risk of prostate cancer (PCa), there are still concerns and a paucity of long-term data. In a new study in The Journal of Urology^®, investigators examined three parallel, prospective, ongoing, cumulative registry studies of over 1,000 men. Their analysis showed that long-term T therapy in hypogonadal men is safe and does not increase the risk of PCa.

Rick Frith2018-08-25T16:31:51-04:00Categories: 47,XXY (Klinefelter)|

Management of Klinefelter syndrome during transition

Article Title: Management of Klinefelter syndrome during transition

Authors: I. Gies, D. Unuane, B. Velkeniers, J. De Schepper

Date of Publication: May 2014

“Medical treatment during transition into adulthood is focused on fertility preservation and testosterone replacement therapy in the case of hypo-androgenism, and alleviation of current or future consequences of testicular fibrosis. However, more research is needed to determine the need for pro-active testosterone treatment in adolescence, as well as the conditions for an optimal testosterone replacement and sperm retrieval in adolescents and young men with KS. Furthermore, screening for associated diseases such as metabolic syndrome, autoimmune diseases, thyroid dysfunction, and malignancies is warranted during this period of life. The practical medical management during transition and, more specifically, the role of the endocrinologist are discussed in this article.”

Rick Frith2018-08-25T16:41:11-04:00Categories: 47,XXY (Klinefelter)|

Vulnerability for autism traits in boys & men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Article Title: Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility

Authors: Sophie van Rijn, Marit Bierman, Hilgo Bruining, Hanna Swaab

Date of Publication: August 11, 2012

“Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions.”

Rick Frith2018-08-25T16:50:06-04:00Categories: 47,XXY (Klinefelter)|

Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX

Article Title: Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX

Authors: Sophie van Rijn and Hanna Swaab

Date of Publcation: February 12, 2015

“These findings suggest that executive dysfunction may be part of the phenotype of children with an extra X chromosome, impacting the ability to function adequately in everyday life. Furthermore, children with impairments in inhibition may have more problems in regulating their thinking, emotions and behavior.”

Rick Frith2018-08-27T14:30:32-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter)|

Depression Common in Borderline Testosterone

Article Title: 50 Shades of Gray: Depression Common in Borderline Testosterone

Authors: Miriam E. Tucker

Date of Publication: March 07, 2015

“SAN DIEGO, California — More than half of men referred for borderline low testosterone levels have depressive symptoms or overt depression, a new study finds.

The results were presented on March 6 here at the annual meeting of the Endocrine Society, ENDO 2015, by Michael S Irwig, MD, associate professor of medicine and director of the Center for Andrology in the Division of Endocrinology, George Washington University, Washington, DC.”

Read more (access to full article requires Medscape registration)

Rick Frith2018-09-25T10:57:17-04:00Categories: 47,XXY (Klinefelter)|

Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY)

Article Title: Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome (47, XXY)

Authors: Alan Rogol and Nicole Tartaglia

Date of Publication: December 2010

“The goals of androgen therapy for adolescents are to promote linear growth and secondary sexual characteristics, at the same time as to permit the normal accrual of muscle mass, bone mineral content and the adult regional distribution of body fat. Secondary goals are mainly in the psychosocial sphere, in which pubertally delayed boys feel that they look too young, are not considered a ‘peer’ in their age group and have difficulty competing in athletic endeavors. Puberty often starts normally in adolescents with KS corresponding to the peer group with genital enlargement and pubic hair growth. The testes start to enlarge, but rarely expand beyond 6 mL, leaving a discordance between the degree of sexual development and the size of the testes. Androgen therapy is considered mainly supplemental and one usually begins with the long acting esters, testosterone enanthate or cypionate because the other forms patches and gels–are metered for full male replacement. The dose of testosterone is escalated until the lower range of the adult dose is reached and then a choice among the various forms can be made. Treatment-emergent adverse events often represent the pharmacodynamic effects of an androgen oily skin and acne, but as the dose is escalated more effects may be noted in the behavioral sphere, especially in adolescents with Klinefelter syndrome compared to those who receive replacement therapy with testosterone for other purposes, for example, constitutional delay of growth and puberty.”

Rick Frith2018-08-27T14:55:29-04:00Categories: 47,XXY (Klinefelter)|