47,XXY (Klinefelter) Archives - Page 8 of 20 - The Association for X and Y Chromosome Variations

The Association of Motor Skills & Adaptive Functioning in XXY/Klinefelter & XXYY Syndromes

Article Title: The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes

Authors: Tartaglia, Davis, Martin, Cordeiro, and Richardson

Date of Publication: December 28, 2018

“Both conditions have been previously associated with motor delays and motor skills deficits. We aimed to describe and compare motor skills in males with XXY and XXYY syndromes, and to analyze associations with age, cognitive abilities, and adaptive functioning.”

Rick Frith2020-04-21T15:12:53-04:00Categories: 47,XXY (Klinefelter), 48,XXYY|

Neural systems for social cognition: gray matter volume abnormalities (Sophie van Rijn et al)

Article Title: Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder

Authors: Van Rijn, Swaab, Goddard, and Rombouts

Date of Publication: 2015

Rick Frith2020-04-02T14:25:54-04:00Categories: 47,XXY (Klinefelter)|Tags: Autism Spectrum Disorder|

Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome

Article Title: Androgen treatment effects on hippocampus structure in boys with Klinefelter Syndrome

Authors: Foland-Ross, Ross, and Reiss

Date of Publication: September 28, 2018

Rick Frith2020-03-20T15:12:01-04:00Categories: 47,XXY (Klinefelter)|

Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice

Article Title: Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice

Authors: Zganjar, Nangia, Sokol, Ryabets, and Samplaski

Date of Publication: October 14, 2019

Rick Frith2020-03-16T12:50:39-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Fertility Considerations in Adolescent Klinefelter Syndrome: Current Practice Patterns

Article Title: Fertility Considerations in Adolescent Klinefelter Syndrome: Current Practice Patterns

Authors: Bhasin and Oates

Date of Publication: December 26, 2019

Rick Frith2020-03-16T12:44:22-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

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.”

Rick Frith2020-02-18T11:01:00-05:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|

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.”

Rick Frith2020-02-17T21:18:40-05:00Categories: 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.”

Rick Frith2020-02-17T21:17:57-05:00Categories: 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.”

Rick Frith2022-02-16T12:46:56-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

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.”

Rick Frith2020-01-14T14:08:45-05:00Categories: 47,XXY (Klinefelter)|