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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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2022-02-16T12:46:56-05:00Categories: 47,XXY (Klinefelter)|Tags: |

AXYS 2021 Virtual Family Conference

June 21 — June 27, 2021

The conference will have several types of sessions: 

Welcome and Open House Sessions on Monday. These are sessions where you can feel free to drop by and say hi, and stay as long as you wish. See old friends and make new ones.

Can We Chat Sessions are similar to the Zoom chats we’ve been having regularly since last spring. These sessions will not be recorded, so attendees can speak freely, ask questions openly, and have deep discussions. There will be a moderator for each of these sessions and lots of time to ask questions. What is discussed in the “Can We Chat” sessions is private to those who attend.

Lecture Sessions are very much like our webinars, but shorter. An expert will give a 20 minute presentation followed by 20 minutes of Q&A.

We will also have an Introduction Session on Saturday June 19 for those newly diagnosed and those attending an AXYS conference for the first time.


We’re so happy you can join us! A quick reminder that all AXYS event attendees agree to abide by the AXYS Activities Conduct Policy. Please read this prior to attending an AXYS event.

For technical support during the conference, please send text messages to 267-225-1862‬ or message us on Facebook.

2025-05-09T12:28:26-04:00

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|

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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2022-02-16T12:46:27-05:00Categories: 47,XXY (Klinefelter)|Tags: |
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