47,XXY (Klinefelter) Archives - Page 14 of 20 - The Association for X and Y Chromosome Variations

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)|

Mother Labored to Find Reason for Son’s Developmental Delays

Article Title: Mother labored to find reason for son’s developmental delays

Author: Sandra G. Boodman (The Washington Post)

Date of Publication: August 24, 2010

Rick Frith2018-07-14T11:11:32-04:00Categories: 47,XXY (Klinefelter)|

Original Klinefelter Article from 1942

Article Title: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1

Authors: Harry F. Klinefelter, Edward C. Reifenstein, Fuller Albright

Date of Publication: 1942

This is the abstract from the original medical journal article published by Harry Klinefelter in 1942 that described the Klinefelter Syndrome (not to be confused with 47,XXY).

Rick Frith2018-07-14T11:40:05-04:00Categories: 47,XXY (Klinefelter)|

Psychosocial Impact of Klinefelter Syndrome

Article Title: The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

Authors: Amy S. Herlihy, BSc, Robert I. McLachlan, MD, PhD, Lynn Gillam, MA, PhD, Megan L. Cock, BSc, PhD, Veronica Collins, MSc, PhD, and Jane L. Halliday, BSc, PhD

Date of Publication: July 2011

“This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.”

Rick Frith2018-09-28T14:10:53-04:00Categories: 47,XXY (Klinefelter)|

Postnatal screening for XXY (Klinefelter Syndrome)

Article Title: Postnatal screening for Klinefelter syndrome: is there a rationale?

Authors: Amy S. Herlihy, Lynn Gillam, Jane L. Halliday, Robert I. McLachlan

Date of Publication: December 27, 2010

“Diagnosis of Klinefelter syndrome (KS) allows for timely beneficial interventions across the lifespan. Most cases currently remain undiagnosed because of low awareness of KS amongst health professionals, the hesitancy of men to seek medical attention and its variable clinical presentation. Given these barriers, population-based genetic screening provides an approach to comprehensive and early detection. We examine current evidence regarding risks and benefits of diagnosing KS at different ages.”

Rick Frith2018-09-28T11:36:23-04:00Categories: 47,XXY (Klinefelter)|

Assessing the Risks and Benefits of Diagnosing Genetic Conditions through Population Screening

Article Title: Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example

Authors: Amy Simone Herlihy, Jane Halliday, Rob I. McLachlan, Megan Cock, Lynn Gillam

Date of Publication: March 29. 2010

Abstract:

Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.

Rick Frith2018-07-14T13:54:47-04:00Categories: 47,XXY (Klinefelter)|

Prevalence of Klinefelter Syndrome (XXY) in Australia

Article Title: The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison

Authors: Amy S. Herlihy, Jane L. Halliday, Megan L. Cock, Robert I. McLachlan

Date of Publication: January 3, 2011

“A mean prevalence for KS of 152 per 100,000 male births was estimated from newborn screening programs in the 1960s and 1970s in several countries, including Denmark, the United States, Canada, Japan,and the United Kingdom. Despite this high frequency, and features such as small testicles in adulthood, it has been estimated that less than 10% of the estimated number of affected fetuses are detected prenatally, and only 26% of live-born cases are diagnosed postnatally. A birth prevalence for KS of 153 per 100 000 males in Denmark has been estimated using population information and adjusting the prenatal prevalence for maternal age, as KS is an incidental finding of prenatal karyotype tests that are more commonly performed in older mothers. Comparison with postnatal diagnoses confirmed that only 25% of KS cases are detected. The low diagnosis rate suggests most males with KS will not receive potentially beneficial treatments, especially androgen therapy. Most adult diagnoses occur during fertility assessment, beyond the ideal point for intervention. Detection in childhood and timely intervention may be essential for optimal medical and psychosocial outcomes in adulthood.”

Rick Frith2018-09-28T11:40:20-04:00Categories: 47,XXY (Klinefelter)|

Language Delay in Boys? Consider Klinefelter Syndrome

Article title: Language Delay in Boys? Consider Klinefelter Syndrome

Author: Bruce Jancin, Family Practice News

Date of Publication: February 29, 2012

Report on presentation by Dr. Charlotte M. Boney, chief of the division of pediatric endocrinology and metabolism at Hasbro Children’s Hospital in Providence, R.I.

“Seventy-five percent of guys with Klinefelter syndrome aren’t diagnosed until they are adults. We are missing the opportunity to diagnose Klinefelter when we could actually intervene in a timely way to promote normal pubertal development…”

While Dr. Boney’s comments focus on 47,XXY, we believe this article is relevant to all X and Y chromosome variations because some of the developmental indicators Dr. Boney mentions affect all conditions.

Read more (requires registration or login with social media account)

Rick Frith2018-09-28T10:55:16-04:00Categories: 47,XXY (Klinefelter)|