47,XXY (Klinefelter) Archives - Page 19 of 20 - The Association for X and Y Chromosome Variations

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)|

Cardiovascular Abnormalities in Klinefelter Syndrome

Article Title: Cardiovascular abnormalities in Klinefelter syndrome

Authors: D. Pasquali, M. Arcopinto, A. Renzullo, M. Rotondi, G. Accardo, A. Salzano, D. Esposito, L. Saldamarco, A.M. Isidori, A.M. Marra, A. Ruvolo, R. Napoli, E. Bossone, A. Lenzi, R.R. Baliga, L. Saccà, A. Cittadini

Date of Publication: October 23, 2012

“Several epidemiological studies have demonstrated an increased mortality from cardiovascular causes in patients with Klinefelter Syndrome (KS). Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, vascular reactivity, and carotid intima-media thickness in a group of patients with KS.”

Rick Frith2018-08-27T15:06:14-04:00Categories: 47,XXY (Klinefelter)|

In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome

Article Title: In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome

Authors: S. Close, L. Sadler, M. Grey

Date of Publication: May 30, 2015

“The purpose of this mixed method study was to describe family management challenges for parents who have sons with Klinefelter Syndrome (KS). Standardized survey results showed that stress, quality of life and family management struggles varied by parent age. When interviewed, parents described feeling uninformed and without support to make decisions about managing their sons’ KS. Parents reported that a lack of guidance and case coordination created barriers in caring for their sons throughout childhood. Given the prevalence of KS, health care providers need to be prepared to provide comprehensive evaluation and anticipatory guidance for KS boys and families.”

Rick Frith2018-08-27T15:10:04-04:00Categories: 47,XXY (Klinefelter)|

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Article Title: Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Authors: S. Close, I. Fennoy, A. Smaldone, N. Reame

Date of Publication: June 22, 2015

“To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health…Depending on the degree of phenotypic abnormality, boys with KS may be at risk for impaired QOL. Testosterone levels were not shown to influence psychosocial health. The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys.”

Rick Frith2020-02-18T10:49:37-05:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|

Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

Article Title: Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

Authors: A. S. Herlihy and L. Gillam

Date of Publication: 2011

“Ultimately, we decided that the goal of our research was to look at KS as a genetic condition affecting males, and not just the karyotype XXY, which may manifest in different ways for a small number of people. With little evidence in the literature to guide clinicians as to the gender profiles of people with XXY, the best practice is to approach each patient with an open mind (Gillam et al., 2010). However, this issue begs further exploration: Should individuals with an XXY karyotype who do not identify as male be considered to have KS? In addition, how should individuals with an XXY karyotype who do identify as male, but do not wish to become more masculine, be informed of the possible consequences of lifelong testosterone deficiency, whilst maintaining respect for the patient’s choice? This is an area of endocrinology that would benefit from further discussion and collation of clinical experience. Research into the range of karyotypes and their possible corresponding phenotypes, in addition to the current difficulties experienced by these people, would be beneficial.”

Rick Frith2018-08-28T12:01:34-04:00Categories: 47,XXY (Klinefelter)|