47,XXY (Klinefelter) Archives - Page 8 of 21 - The Association for X and Y Chromosome Variations

Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome

Article Title: Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome

Authors: Skakkebæk, Gravholt, Chang, Moore, and Wallentin

Date of Publication: June 2020

“Klinefelter syndrome (KS; 47,XXY) impacts neurodevelopment and is associated with an increased risk of cognitive, psychological and social impairments, although significant heterogeneity in the neurodevelopmental profile is seen. KS is characterized by a specific cognitive profile with predominantly verbal deficits, preserved function in non-verbal and visuo-spatial domains, executive dysfunction and social impairments, and by an increased vulnerability toward psychiatric disorders. The neurobiological underpinnings of the observed neuropsychological profile have not been established. A distinct pattern of both global and regional brain volumetric differences has been demonstrated in addition to preliminary findings of functional brain alterations related to auditory, motor, language and social processing. When present, the combination of cognitive, psychological and social challenges has the potential to negatively affect quality of life. This review intends to provide information and insight to the neuropsychological outcome and brain correlates of KS. Possible clinical intervention and future directions of research will be discussed.”

Rick Frith2020-11-05T14:39:25-05:00Categories: 47,XXY (Klinefelter)|

Executive function in XXY: Comparison of performance-based measures and rating scales

Article Title: Executive function in XXY: Comparison of performance-based measures and rating scales

Authors: Janusz, Harrison, C. Boada, Cordeiro, Howell, Tartaglia, and R. Boada

Date of Publication: June 2020

“Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/ problem solving. Parent ratings showed similar challenges, as well as impaired inhibition. Independent sample t-tests showed no difference on performance measures between boys diagnosed or not diagnosed with attention-deficit/hyperactivity disorder (ADHD), although parents of boys diagnosed with ADHD reported more difficulties. There were no differences on performance-based tests between those diagnosed pre- and postnatally, although parents of postnatally diagnosed boys reported more metacognitive problems. Language deficits, cognition, and socio-economic status did not account for EF deficits.”

Rick Frith2022-02-25T17:07:32-05:00Categories: 47,XXY (Klinefelter)|Tags: ADHD, Executive Function|

High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome

Article Title: High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome

Authors: Davis, DeKlotz, Nadeau, Kelsey, Zeitler, and Tartaglia

Date of Publication: June 2020

“Klinefelter syndrome (KS) occurs in 1:600 males and is associated with high morbidity and mortality due to diabetes and cardiovascular disease. Up to 50% of men with KS have metabolic syndrome, a cluster of features conferring increased risk for diabetes and cardiovascular disease. These cardiometabolic (CM) risk features have not been studied in adolescents with KS. The objective of this cohort study was to compare CM risk features in adolescents with KS to controls matched for sex, age, and BMI z score.”

Rick Frith2020-11-05T12:49:50-05:00Categories: 47,XXY (Klinefelter)|

Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Article Title: Counseling in Pediatric Populations at Risk for Infertility and/or Sexual Function Concerns

Authors: Nahata, Quinn, and Tishelman

Date of Publication: July 30, 2018

“Health care providers and parents report challenges in knowing how and when to discuss these issues. In this context, the goal of this clinical report is to review evidence and considerations for providers related to information sharing about impaired fertility and sexual function in pediatric patients attributable to congenital and acquired conditions or treatments.”

Rick Frith2020-10-09T12:25:06-04:00Categories: 47,XXY (Klinefelter), 48,XXXY, 48,XXYY, Other Variations|

European Academy of Andrology Guidelines on Klinefelter Syndrome

Article Title: European Academy of Andrology (EAA) Guidelines on Klinefelter Syndrome

Authors: Zitzmann, Aksglaede, Corona, Isidori, Juul, T’Sjoen, Kliesch, D’Hauwers, Toppari, Słowikowska-Hilczer, Tüttelmann, and Ferlin

Date of Publication: September 22, 2020

“These guidelines provide recommendations and suggestions to care for patients with KS in various developmental stages ranging from childhood and adolescence to adulthood. This advice is based on recent research data and respective evaluations as well as validations performed by a group of experts.”

Rick Frith2020-09-29T11:08:05-04:00Categories: 47,XXY (Klinefelter)|

Marked Increase in Incident Gynecomastia: A 20-year National Registry Study 1998-2017

Article Title: Marked Increase in Incident Gynecomastia: A 20-year National Registry Study 1998-2017

Authors: Koch, Bräuner, Busch, Hickey, and Juul

Date of Publication: July 7, 2020

“The incidence of gynecomastia has dramatically increased over the last 20 years implying that the endogenous or exogenous sex steroid environment has changed, which is associated with other adverse health consequences in men such as an increased risk of prostate cancer, metabolic syndrome, diabetes type 2 or cardiovascular disorders.”

Rick Frith2020-08-07T15:40:37-04:00Categories: 47,XXY (Klinefelter)|Tags: Gynecomastia|

Fertility management of Klinefelter syndrome

Article Title: Fertility management of Klinefelter syndrome

Authors: Fainberg, Hayden and Schlegel

Date of Publication: October 7, 2019

“Individuals with KS have a relatively good prognosis for sperm recovery compared to other men with idiopathic NOA. Surgical success is heavily dependent upon surgical technique and the experience of the andrology/embryology team tasked with the identification and use of testicular sperm.”

Rick Frith2020-07-28T13:00:03-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

The epidemiology of sex chromosome abnormalities

Article Title: The epidemiology of sex chromosome abnormalities

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: May 11, 2020

“Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.”

Rick Frith2020-06-16T17:22:47-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Early neurodevelopmental and medical profile in children with sex chromosome trisomies

Article Title: Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

Authors: Tartaglia, Howell, Davis, Kowal, Tanda, Brown, Boada, Alston, Crawford, Thompson, Van Rijn, Wilson, Janusz, and Ross

Date of Publication: May 13, 2020

“This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.”

Rick Frith2020-06-16T17:00:13-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Article Title: Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Authors: Chang, Skakkebæk, Davis, and Gravholt

Date of Publication: April 28, 2020

“…KS is associated with an array of health-related and socioeconomic challenges and it is becoming progressively clear that proper care for boys and men with KS reaches far beyond simply supplementing with testosterone. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. For this descriptive review, we present an overview of literature describing health-related outcomes of testosterone treatment in KS and outline the clinical applications of testosterone treatment in KS. Collectively, beneficial effects of testosterone treatment on overall health in KS are described with few apparent adverse effects. However, larger randomized studies in adult and pediatric patients are warranted to elucidate key aspects of treatment. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS.”

Rick Frith2020-06-09T14:38:29-04:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|