Delaying testicular sperm extraction in 47,XXY Klinefelter patients

Article Title: Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive

Authors: Renault, Labrune, D’Estaing, Cuzin, Lapoirie, Benchaib, Lornage, Soignon, De Souza, Dijoud, Fraison, Pral-Chatillon, Bordes, Sanlaville, Schluth-Bolard, Salle, Ecochard, Lejeune, and Plotton

Date of Publication: September 16, 2022

“Should testicular sperm extraction (TESE) in non-mosaic 47,XXY Klinefelter syndrome (KS) patients be performed soon after puberty or could it be delayed until adulthood?”

Rick Frith2022-11-16T14:45:18-05:00Categories: 47,XXY (Klinefelter)|Tags: Fertility, TESE|

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

Rick Frith2022-11-11T16:32:26-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Mosaicism, Other Variations|Tags: NIPS, NIPT, prenatal|

Klinefelter Syndrome: What should we tell prospective parents?

Article Title: Klinefelter Syndrome: What should we tell prospective parents?

Authors: White, Zacharin, Fawcett, and McGillivray

Date of Publication: October 12, 2022

“With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.”

Rick Frith2022-10-25T13:09:07-04:00Categories: 47,XXY (Klinefelter)|Tags: NIPT, prenatal|

Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

Rick Frith2022-10-20T14:33:20-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, All Variations, Mosaicism, Other Variations|Tags: NIPS, prenatal|

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Article Title: Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Authors: Tang, Lin, Guo, Hou, and Yu

Date of Publication: April 22, 2019

“FISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.”

Rick Frith2022-10-19T13:16:14-04:00Categories: 47,XXX (trisomy x), Mosaicism|Tags: 45X, Fertility, Turner syndrome|

Mosaic double aneuploidy: Down syndrome and XYY

Article Title: Mosaic double aneuploidy: Down syndrome and XYY

Authors: Parihar, Koshy, and Srivastava

Date of Publication: July 2013

“Down syndrome (trisomy 21) is the most common aneuploidy seen in live born infants. Rarely, infants with typical phenotypic features of Down syndrome may have an additional aneuploidy. We report a patient with Down syndrome who had mosaicism for XYY. There is only one other report of such a patient.”

Rick Frith2022-10-19T13:09:07-04:00Categories: 47,XYY, Mosaicism|

Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Article Title: Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Authors: Pattamshetty, Mantri, and Mohan

Date of Publication: April 12, 2020

“Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases.”

Rick Frith2022-10-19T13:05:04-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Article Title: Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Authors: Samplaski, Lo, Grober, Millar, Dimitromanolakis, and Jarvi

Date of Publication: April 2014

“Klinefelter syndrome (KS) is the most common genetic cause of human male infertility. About 80% to 85% of cases are due to the congenital numerical chromosome aberration 47,XXY. Approximately 15% to 20% of KS men are mosaics, usually with two cell lines: 47,XXY/46,XY. The true prevalence of mosaic forms may be underestimated due to different chromosomal mosaicism levels in different tissues. In addition, popular belief holds that men with mosaic KS are more androgenized than their non-mosaic counterparts. These two factors, in addition to others, may result in underdetection of men with mosaic KS.”

Rick Frith2022-10-19T13:00:26-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

GALAXY Registry

GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

Since many of the X&Y variations are rare, we need to help doctors and researchers by having one registry where they can both add medical data and access data to craft medical articles. This will help the AXYS community get better, informed medical care. AXYS supports this registry. Dr. Shanlee Davis is the lead doctor for this project.

If you join the study, you are allowing information in your medical records to be used for research. Additionally, you have the option to complete questionnaires or join a recruitment list for future research. The registry webpage is accessed here: www.galaxyregistry.org

To learn more about this project, contact 720-777-0705 or email galaxy@ucdenver.edu.

(COMIRB# 20-0482, ; PI Dr. Shanlee Davis; funded in part by AXYS)

You can also enroll yourself/your child in the registry online without coming into clinic, click here for the eligibility and consent information.

View/Download the GALAXY Registry flyer

GALAXY Registry Dashboard

View this dashboard to see how many people are in the registry. We’re making great progress!

Rick Frith2022-11-16T14:27:55-05:00

AXYS 2023 Virtual Family Conference

View the videos from the conference lectures on our YouTube channel

June 22 — June 27, 2023

Please mark your calendars for June 22 to 27, 2023. The schedule will be announced soon. While we are sad to not get together in person, we are happy to be able to offer our amazing educational sessions and social events to you in your home. It is our hope that this will allow the maximum number of individuals with an X&Y variation and their families to participate.

Speakers include Dr. Nicole Tartaglia, Dr. Shanlee Davis, Dr. Erin Torres and Dr. Sharron Close. More speakers will be added as we confirm their schedules. Topics include: testosterone, the GALAXY registry, research update, and fertility. We will gather by condition and by geography.

Volunteer to help plan the Conference
We are creating a list of potential volunteers. Please use this survey to sign up: https://www.surveymonkey.com/r/AXYS2023Volunteer

Conference Suggestions
The Conference Planning Committee is taking under consideration past conference attendee surveys, the surveys we have done prior to other conferences, and emails and conversations from our community. We are using this feedback and your suggestions to plan our 2023 AXYS Family Conference. If you have suggestions, please use this form to share them with the planning committee: https://www.surveymonkey.com/r/AXYS2023Input

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.

Rick Frith2024-07-19T15:45:53-04:00

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GALAXY Registry: Generating Advancements in Longitudinal Analysis in X&Y Chromosome Variations

GALAXY Registry Dashboard