Article Title: Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1
Authors:
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).
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.”
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.”
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.
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.”
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)
Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY
Authors: Nicole R. Tartaglia, MD, Natalie Ayari, BA, Christa Hutaff-Lee, PhD, Richard Boada, PhD
Date of Publication: May 2012
Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.).
Article Title: It’s not all about the testes: medical issues in Klinefelter patients
Author: Rebecca Z. Sokol, MD, MPH. Published in the American Society for Reproductive Medicine
Date of Publication: 2012
Excellent review of the medical issues associated with KS (XXY).
Some with 47,XXY question their gender identity. These individuals feel the influence of the extra X and do not feel as if they are male. These individuals may avoid therapy for hypogonadism…typically testosterone hormone replacement therapy…in favor of estrogen or no HRT at all.
Some with 47,XXY use the term “intersex” to describe how they feel. But some in the scientific community question their use of this term, because its scientifically accepted application applies to those born with ambiguous genitalia…not clearly male or female. Some scientists prefer the use of the term “transgender” to describe individuals with 47,XXY who do not identify as male. “Transgender” also carries sometimes confusing connotations.
Terminology aside, there is a significant number of individuals with 47,XXY who identify as a different gender. AXYS respects and embraces this diversity.
Meanwhile, there is a larger, worldwide conversation about intersex that is focused on those with ambiguous genitalia. Our friends in the intersex community asked that we share this movie trailer. It focuses on issues related to the one in 2000 individuals who are born with ambiguous genitalia.
Watch the trailer
We are happy to share.
Some of the birth images are explicit.
Article Title: Executive Function in Young Males with Klinefelter (XXY) Syndrome with and without Comorbid Attention-Deficit/ Hyperactivity Disorder
Authors: Nancy Raitano Lee, Gregory L. Wallace, Liv S. Clasen, Rhoshel K. Lenroot, Jonathan D. Blumenthal, Samantha L. White, Mark J. Celano, and Jay N. Giedd
Date of Publication: February 2011
Abstract: Deficits in executive function (EF) are reported to occur in individuals with Klinefelter syndrome (XXY). The degree of impairment, if any, is variable and the nature of these deficits has not been clearly elucidated in young males. In this report, we (a) examine EF skills using multiple tasks in a non-clinic referred group of youth with XXY, (b) describe the extent of EF weaknesses in XXY when this group is compared with typical males of a similar SES or typical males with similar verbal abilities, and (c) evaluate the contribution of comorbid attention-deficit/hyperactivity disorder (ADHD) to EF skills. The sample included 27 males with XXY (ages 9–25), 27 typically developing age- and vocabulary-matched males, and 22 age- and socioeconomic status-matched males. EF tasks included Verbal Fluency, the Trail Making Test, and the CANTAB Spatial Working Memory and Stockings of Cambridge tasks. Mixed model analysis of variance was used to compare the groups on EF tasks and revealed a main effect of group but no group by task interaction. Overall, the XXY group performed less well than both control groups, but performance did not differ significantly as a function of task. ADHD comorbidity in males with XXY was related to poorer EF skills.
