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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.”

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

Brain and behavior in 48,XXYY syndrome

Article Title: Brain and behavior in 48, XXYY syndrome

Authors: Alli P. Hanley, Jonathan D. Blumenthal, Nancy Raitano Lee, Eva H. Baker, Liv S. Clasen, Jay N. Giedd

Date of Publication: April 15, 2015

“The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). The specificity of these findings may shed light on the role of the X and Y chromosomes in typical and atypical brain development and help provide direction for future studies of brain–behavior relationships in males with XXYY syndrome.”

Rick Frith2020-08-07T15:11:36-04:00Categories: 48,XXYY|

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|

VIDEO: The Cognitive and Behavioral Profile of 47,XXX (Trisomy X): A Research Approach

Video Title: The cognitive and behavioral profile of 47,XXX (Trisomy X): A research approach

Presentation by: Dr. Sophie Van Rijn

Date of Recording: April 29, 2015

Watch Video

Rick Frith2018-08-28T11:23:37-04:00Categories: 47,XXX (trisomy x)|

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)|

What is Intersex?

Article Title: What is Intersex?

Authors: Organisation Intersex International Australia Limited

Date of Publication: 2010

“INTERSEX is congenital difference in anatomical sex. That is, physical differences in reproductive parts like the testicles, penis, vulva, clitoris, ovaries and so on. Intersex is also physical differences in secondary sexual characteristics such as muscle mass, hair distribution, breast development and stature. Intersex can include things that are invisible to the eye such as chromosomal and hormonal differences. Those kinds of differences usually have a manifestation in primary or secondary sexual anatomy that is visible either externally or internally. Brain differences may account for both homosexuality and transsexualism, but intersex isn’t brain sex alone. We are intersex because it is thought the kinds of differences in our anatomy seem to be either male and female at the same time or not quite male or female or neither male or female. So we have physical differences that confuse medicine’s anatomical ideal of male and female. Intersex is not always immediately apparent because in our society we do not commonly look at each other’s genitals or internal organs.”

Rick Frith2018-09-02T15:58:50-04:00Categories: 47,XXY (Klinefelter), Other Variations|

A New Look at XXYY Syndrome: Medical and Psychological Features

Article Title: A New Look at XXYY Syndrome: Medical and Psychological Features

Authors: Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen, and Randi Hagerman

Date of Publication: March 2008

“XXYY syndrome occurs in approximately 1:18,000–1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.”

Rick Frith2018-09-02T16:26:54-04:00Categories: 48,XXYY|