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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)|

AXYS Welcomes New Board Member

AXYS is thrilled to announce that Justin Dausch has joined our board. Justin served as a volunteer for AXYS in the area of finance in 2019. An attorney licensed to practice in Pennsylvania and New Jersey, Justin can be called upon to guide AXYS on legal matters. His main role on the board will use his expertise on finance and compliance. “I looking forward to utilizing my professional experience to give back to the community,” said Justin.

2020-02-13T15:44:37-05:00Categories: All Variations|Tags: |

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)|

Emory University’s Amy Blumling: “Learning about things larger than you”

Article Title: Learning about thing larger than you

Author: Pam Auchmutey (Emory University, Nursing Magazine)

Date of Publication: Fall 2019

“As a School of Nursing doctoral student, Amy Blumling provides much-needed care to a special patient population at Emory Healthcare. Twice monthly, she and other providers see patients at the eXtraordinarY Clinic, the Southeast’s only clinic for children with sex chromosome disorders.”

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2020-01-14T10:10:32-05:00Categories: 48,XXYY, All Variations|
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