Library - Page 23 of 34 - The Association for X and Y Chromosome Variations

Testosterone Deficiency

Article Title: Testosterone Deficiency

Author: E. Barry Gordon, MD

Date of Publication: 2006

Most people have heard of testosterone, but very few are aware of the diseases resulting from the hormone’s deficiency. This situation is not surprising. Testosterone is frequently in the news media either because of its energizing effect on our sexuality or, more commonly, because of its illegal overuse to enhance athletic performance. Because of this the hormone has taken on something of a sordid, sleazy, even illegal, aura.

The reason very few people are aware of the disease of testosterone deficiency is that no one talks about it. It’s been swept under the medical rug and kept there. Even most of the medical community know very little, if anything, about the scope and severity of this disease. Many don’t want to know about it. They are frightened by the myths and don’t want to be associated with the popular perceptions.

Rick Frith2022-03-10T09:44:15-05:00Categories: 47,XXY (Klinefelter)|

Triple X syndrome: a review of the literature

Article Title: Triple X syndrome: a review of the literature

Authors: Otter, Schrander-Stumpel, and Curfs

Date of Publication: July 1, 2009

“Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. Notwithstanding the relatively high prevalence of triple X syndrome, there are many issues yet to be studied in physical and behavioural development up to old age.”

“Above all, further study is needed to establish evidence-based treatment and support protocols in physical treatments (endocrinological treatment, fertility issues and treatment in cases with EEG anomalies in relation to behaviour, etc.), educational support, psychiatric diagnosis and treatment, and psychological treatment, such as psychotherapy and family therapy.”

Rick Frith2023-01-14T17:32:49-05:00Categories: 47,XXX (trisomy x)|Tags: Trisomy X Overview|

AAP: Guideline Calls for Pre-K ADHD Evaluation

Article Title: AAP: Guideline Calls for Pre-K ADHD Evaluation

Author: Charles Bankhead

Date of Publication: October 16, 2011

Primary care physicians should begin evaluating children for attention deficit hyperactivity disorder (ADHD) at age 4 and continue through age 18, according to a new clinical guideline from the American Academy of Pediatrics.

Read more
(You may need to setup a free MedPage Today account to view this article.)

Rick Frith2022-02-25T17:04:44-05:00Categories: All Variations|Tags: ADHD|

Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

Title: Tantrum Tamer: New Ways Parents Can Stop Bad Behavior

Author: Shirley S. Wang

Date of Publication: November 8, 2011

Rick Frith2018-07-09T17:35:46-04:00Categories: All Variations|

Understanding and Modifying the Behavior of Children with X and Y Chromosome Variations: A Guide for Parents and Professionals

Article Title: Understanding and Modifying the Behavior of Boys with XXYY: A Guide for Parents and Professionals

Author: Karen Riley, PhD

Date of Publication: 2007

This paper was originally commissioned by the XXYY Project. At the urging of Dr. Riley, the XXYY Project has generously shared their valuable “Behavior Paper” with AXYS.

While this paper focuses on the behavioral profile of XXYY, it will prove very valuable for any child who is experiencing behavior issues. This paper provides step-by-step instructions for coping with behavioral issues that many children with X and Y chromosome variations may experience to one degree or another.

We urge you to review this document and generally substitute your child’s condition for XXYY. In most cases, the fit is very good.

Once again, we offer our sincere thanks to the XXYY Project for sharing this important work with the AXYS community.

Rick Frith2018-07-14T10:45:59-04:00Categories: All Variations|

Human Genome Discussion

Title: How many genomes do you have?

Author: John Rennie

Date of Publication: November 29, 2011

Rick Frith2018-07-09T17:39:49-04:00Categories: All Variations|

Prevalence and Psychosocial Correlates of Depressive Symptoms Among Adolescents and Adults with Klinefelter Syndrome

Article Title: Prevalence and Psychosocial Correlates of Depressive Symptoms among Adolescents and Adults with Klinefelter Syndrome

Authors: Amy Turriff, ScM, Howard P. Levy, MD, PhD, and Barbara Biesecker, PhD, MS

Date of Publication: November, 2011

“Individuals with XXY may be at increased risk for depression. Routine screening for depressive symptoms and appropriate referral and evaluation may be warranted.”

Rick Frith2018-09-08T20:27:13-04:00Categories: 47,XXY (Klinefelter)|

Role of the X Chromosome in Social Behavioural Dysfunction and Autism-like Behaviour

Article Title: Role of the X Chromosome in Social Behavioural Dysfunction and Autism-like Behaviour

Authors: Sophie van Rijn, Hanna Swaab, Marit Bierman, Rita Zijlstra

Date of Publication: January 2010

“Social cognitive competence appears to be a good predictor of social behaviour and adaptation. Individual variance in social cognitive competence is, for a substantial part, attributable to genetic factors. Deficits in social behaviour are seen in populations such as those with autism-spectrum disorders, and although social (dys)functioning may be similar at the level of behavioural phenotypes, it may substantially differ with regard to the underlying cognitive and genetic pathways. In this review study it is argued that there is a need to study the neurocognitive and behavioural phenotypes in more homogeneous genetic groups. This enables us to identify aetiological pathways to psychopathology. In both Turner syndrome (45, XO) and Klinefelter syndrome (47, XXY), basic social-cue processing deficits are observed, which may contribute to difficulties in social intuition and hence in coping with social situations. The study of these two syndromes opens up opportunities to study the influence of the X chromosome on brain behaviour developmental trajectories of social functioning and psychopathology in heterogeneous populations.”

The authors have presented at AXYS Families’ Conferences and participated in AXYS Scientific Conferences.

Rick Frith2018-09-09T10:11:00-04:00Categories: All Variations|

Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome

Article Title: Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

Authors: K. Steinman, J. Ross, S. Lai, A. Reiss, F. Hoeft

Date of Publication: December 15, 2009

Highly technical article that looks at various research studies associated with neurobiology and neuroimaging of 47,XXY brains. Could be a useful article for discussions with medical professionals interested in the underlying neuroanatomy involved with XXY. Also could be helpful for situations involving the legal system where it is important for the court to understand the neurobiological differences that can be present in XXY.

Rick Frith2018-07-14T10:59:30-04:00Categories: 47,XXY (Klinefelter)|

Cognitive Phenotype in Klinefelter Syndrome (XXY)

Article Title: The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature Including Genetic and Hormonal Factors

Authors: Nicole Tartaglia, Richard Boada, Jennifer Janusz, Christa Hutaff-Lee

Date of Publication: December 15, 2009

“Klinefelter syndrome (KS) or 47,XXY occurs in 1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems. In addition to medical findings, the presence of the extra X chromosome can lead to characteristic cognitive and language deficits of varying severity. While a small, but significant downward shift in mean overall IQ has been reported, the general cognitive abilities of patients with KS are not typically the intellectual disability range. Most studies support that males with KS have an increased risk of language disorders and reading disabilities.Results of other studies investigating the relationship between verbal and nonverbal/spatial cognitive abilities have been mixed, with differing results based on the age and ascertainment method of the cohort studied. Executive function deficits have been identified in children and adults with KS, however, the research in this area is limited and further investigation of the neuropsychological profile is needed. In this article, we review the strengths and weaknesses of previous cognitive and neuropsychological studies in males with KS in childhood and adulthood, provide historical perspective of these studies, and review what is known about how hormonal and genetic factors influence cognitive features in 47,XXY/KS.”

Rick Frith2018-09-25T11:57:16-04:00Categories: 47,XXY (Klinefelter)|