47,XXY (Klinefelter)

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The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature (Psychosocial and Quality of Life Impact)

Article Title: The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature

Authors: Hanna, Cheetham, Fearon, Herbrand, Hudson, McEleny, Quinton, Stevenson, and Wilkes

Date of Publication: November 26, 2019

“This review examines the existing psychosocial evidence around the impact of KS, exploring what we know about KS and its relevance for health care for this group.”

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2020-02-18T11:01:00-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction

Article Title: Sperm retrieval rates in non-mosaic Klinefelter patients undergoing testicular sperm extraction: what expectations do we have in the real-life setting?

Authors: Boeri et al

Date of Publication: January 30, 2020

“A recent meta-analysis (Corona et al, 2017) reported positive sperm retrieval rates (SRR) in 50% of patients with Klinefelter syndrome (KS) undergoing testicular sperm extraction (TESE). However, these results do not reflect the rates of SR that we observe in clinical practice. We assessed the rate and potential predictors of SR in Klinefelter patients in the real-life setting.”

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2020-02-17T21:18:40-05:00Categories: 47,XXY (Klinefelter)|

Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia

Article Title: Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia: a systematic review and meta-analysis

Authors: Corona et al

Date of Publication: October 30, 2019

“This analysis shows that cTESE/mTESE in subjects with NOA results in SRRs of up to 50%, with no differences when cTESE was compared to mTESE. Retrieved sperms resulted in a LBR of up to 28% ICSI cycle. Although no difference between techniques was found, to conclusively clarify if one technique is superior to the other, there is a need for a sufficiently powered and well-designed randomized controlled trial to compare mTESE to cTESE in men with NOA.”

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2020-02-17T21:17:57-05:00Categories: 47,XXY (Klinefelter)|

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Article Title: Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Authors: Gravholt, Chang, Christiansen, Bojesen, Juul, Münster

Date of Publication: December 11, 2019

“Klinefelter syndrome (KS), 47,XXY, can be viewed as a disease model for investigating the risk of thrombosis in male hypogonadism and the subsequent risk related to testosterone treatment. We describe rates of thrombotic risk factors, thrombosis and thrombosis mortality in KS and the association with testosterone treatment.”

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2020-02-05T12:41:10-05:00Categories: 47,XXY (Klinefelter)|

Hypogonadotropic Hypogonadism, Delayed Puberty and Risk for Neurodevelopmental Disorders

Article Title: Hypogonadotropic Hypogonadism, Delayed Puberty and Risk for Neurodevelopmental Disorders

Authors: Vide Ohlsson Gotby, Olle Söder, Louise Frisén, Eva Serlachius, Sven Bölte, Catarina Almqvist, Henrik Larsson, Paul Lichtenstein, Kristiina Tammimies

Date of Publication: November 12, 2019

“This is the first study to demonstrate a significant association between HH (Hypogonadotropic Hypogonadism), delayed puberty and NDDs (neurodevelopmental disorders) in a population-based cohort. Clinicians should be aware of the overlap between these disorders. Further studies should explore the mechanisms behind these associations.”

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2020-01-14T14:08:45-05:00Categories: 47,XXY (Klinefelter)|

Cardiac Functioning and Blood Pressure of 47,XYY and 47,XXY Men

Article Title: Cardiac Functioning and Blood Pressure of 47,XYY and 47,XXY Men in a Double-Blind, Double-Matched Population Survey

Authors: Erik Boison, David R. Owen, Lejf Rasmussen, and Joseph Sergeant

Date of Publication: 1981

“This paper reports the electrocardiogram measures and blood pressure of 12 men with 47,XYY, 14 men with 47,XXY, and 52 matched controls with 46,XY. The abnormal karyotypes were identified in a systematic population search for XYY and XXY men. The subjects and their matched controls were examined in a double-blind fashion. Electrocardiogram measures of 47,XYY and 47,XXY men were found to differ from those of 46,XY controls. The XYYs had longer P-R intervals, shorter QRS complexes, and nonsignificantly longer R-R intervals than their matched controls. The XXYs showed longer R-R intervals and trends for prolonged P-R intervals and shorter QRS complexes when compared with their controls. Trends toward increased within-group variability in the XYY and XXY groups were observed in five of six variance tests, suggesting that the sex chromosome aneuploids have a cardiac conduction anomaly. Blood pressure measures of 47,XYY and 47,XXY men were found not to differ from those of 46,XY men. None of the measures revealed a significant difference between the XYYs and the XXYs.”

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2019-12-10T15:12:59-05:00Categories: 47,XXY (Klinefelter), 47,XYY|

Changes in the cohort composition of TS, severe non-diagnosis of KS, 47,XXX and 47,XYY syndrome

Article Title: Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: January 14, 2019

“The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.”

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Testosterone treatment and association with thrombin generation and coagulation inhibition in KS

Article Title: Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: August 19, 2019

“In this cross-sectional study thrombin generation in men with KS was inversely associated with testosterone and androgen action. T-KS [testosterone treated Klinefelter syndrome] expressed a less pro-coagulant thrombin generation profile compared with U-KS [untreated Klinefelter syndrome]. Whether testosterone treatment in KS affects thrombosis risk in KS needs to be evaluated from longitudinal studies.”

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2019-10-30T14:46:22-04:00Categories: 47,XXY (Klinefelter)|

A placebo-controlled randomized study with testosterone in Klinefelter Syndrome

Article Title: A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: August 7, 2019

“Testosterone treatment in adult males with KS for 6 months leads to favorable changes in body composition with reductions in fat mass, including abdominal fat mass, but does not change measures of glucose homeostasis.”

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2019-10-30T14:12:43-04:00Categories: 47,XXY (Klinefelter)|

Emotion regulation in adults with Klinefelter syndrome (47,XXY)

Article Title: Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems

Authors: Sophie van Rijn and Hanna Swaab

Date of Publication: October 8, 2019

This paper is from ACRC member and AXYS Family Conference presenter Dr. Sophie van Rijn. While only 26 men participated in this study and the results are from a self-reported questionnaire, this paper shines a light on issues commonly faced by adults with 47,XXY.

The aim of this study was to evaluate if language and executive functioning deficits in individuals with 47,XXY contribute to emotion regulation problems. Results: Atypical emotion regulation strategies were found in the XXY group, with increased expression of emotions (69%), avoiding (65%), distraction seeking (54%), and passive coping (54%). More difficulties in mental flexibility and attention regulation, and speeded responding were associated with more pronounced emotion expression (emotional outbursts). Emotion regulation problems were associated with symptoms of anxiety, depression, thought problems, and hostility.

Conclusion: This study has identified emotion regulation as a potential target for treatment and intervention, with a specific focus on executive functions in the management of emotions in individuals with 47,XXY.

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2019-10-10T16:02:50-04:00Categories: 47,XXY (Klinefelter)|
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