Congenital heart defects associated with aneuploidy syndromes

Article Title: Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

Authors: Lin, Santoro, High, Goldenberg, and Gutmark-Little

Date of Publication: November 7, 2019

“The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY).We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a ‘phenotype’ which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.”

Rick Frith2021-09-17T19:58:01-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXYY, Other Variations|

The Need for Greater Awareness of Sex Chromosome Variations

Article Title: The Need for Greater Awareness of Sex Chromosome Variations

Author: Erin Torres, MSN, PMHNP-BC, RN-BC

Date of Publication: September 2021

From the article’s abstract: “Health care providers remain ill prepared to recognize these conditions and support patients and their families.”

Rick Frith2021-09-02T11:12:57-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations, Other Variations|

The Remains Of A Warrior Found In Finland May Have Had Klinefelter Syndrome: NPR

“Analysis of ancient DNA found in Finland has unveiled a surprise a century later – the remains of an early medieval warrior thought to be female may have been nonbinary…In their findings, the researchers noted that the remains were “badly damaged” and that they only had a small sample to test. But through the use of modeling, they said they “found overwhelming evidence that the genetic data of the Suontaka individual most closely resemble an XXY karyotype.”

Read the full article

“1,000-Year-Old Remains May Be Of A Highly Respected Nonbinary Warrior, Study Finds.” NPR. 9 August 2021. Accessed 11 August 2021.

Rick Frith2021-08-11T14:31:27-04:00Categories: 47,XXY (Klinefelter)|

XXYY Project Clinic Visit Stipend

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $750 stipend to help up to 10 families per calendar year with the costs of their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. This can be used to offset the visit to a clinic for an individual diagnosed with 48,XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete this application form. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel-related receipts. You will also need to provide a note from the clinic confirming your visit so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $750.

Clinic Visit Stipend Application Form

Clinic Visit Stipend

The XXYY Project is thrilled to offer a $480 stipend to help up to 10 families per calendar year with the costs to their visit to an ACRC ( AXYS Clinical and Research Consortium) clinic. This can be used to offset the first visit to a clinic for an individual diagnosed with 48, XXYY.

We ask that you:
1. Be registered with the XXYY Project. Visit https://genetic.org/xxyy-project-family-information-forms/ if you need to register.
2. Complete the application form below. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form for travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with XXYY to visit an ACRC clinic. The total of the receipts submitted must be greater than or equal to $480.

Clinic Visit Stipend Application Form

Rick Frith2025-03-25T10:02:19-04:00

The Story of Rapha, a Boy with 48,XXXY/49,XXXXY

RAPHA from Josh Rowe on Vimeo.

Rick Frith2022-10-19T12:59:56-04:00Categories: 48,XXXY, Mosaicism, Other Variations|Tags: XXXXY|

Cortical gray matter structure in boys with Klinefelter syndrome

Article title: Cortical gray matter structure in boys with Klinefelter syndrome

Author: Foland-Ross, Gil, Shrestha, Chromik, Hong, and Reiss

Date of Publication: May 4, 2021

“…[W]e conducted a rigorous analysis of KS-associated alterations in cortical gray matter structure using a surface-based analysis of cortical volume, thickness and surface area. To control for the effects of puberty and testosterone replacement therapy, we focused on pre- or early-pubertal males who had not yet initiated hormone supplementation. We hypothesized that males with KS would exhibit reduced cortical gray matter in the insula, temporal and frontal cortices relative to TD males, as well as increased cortical gray matter in the parietal and sensorimotor regions. Additionally, we explored whether KS-associated alterations in cortical gray matter were correlated with differences in cognitive and behavioral symptoms associated with this condition.”

Rick Frith2021-06-08T13:35:43-04:00Categories: 47,XXY (Klinefelter)|

A clinical algorithm for management of fertility in adolescents with Klinefelter syndrome

Article title: A clinical algorithm for management of fertility in adolescents with the Klinefelter syndrome

Author: Masterson III, Nassaub, and Ramasamya

Date of Publication: May 2020

“In this review, we will discuss contemporary management of adolescents with Klinefelter’s syndrome, with a specific focus on fertility preservation and management of hypogonadism. As urologists often see these children after evaluation by an endocrinologist, we simplify our treatment strategy by creating case scenarios and present a treatment algorithm.”

Rick Frith2021-06-08T12:54:03-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Conference Privacy and Confidentiality

So that community members with scheduling conflicts can fully participate in our conference we will record sessions. We do all we can to protect your privacy including:

We do not record “Safe Space” sessions
We do not record chats

Participating in a virtual event means that our sessions are broadcast via the internet. If you wish to protect your privacy feel free to:

Change your name on Zoom prior to entering each session. Click on the 3 dot menu and select rename. You can use only a first name, initials or create a moniker.
Turn off your camera.
Ask questions or make comments directly to the AXYS volunteer or staff member in the chat or in the Q&A instead of speaking. The AXYS team is happy to ask questions anonymously on your behalf.

The AXYS Community is built on trust therefore we expect everyone who attends our Virtual Conference to respect the privacy of all attendees. Comments made in the conference, stay in the conference. Attendees may be sharing personal information that is not intended to be shared beyond the AXYS community.

Do not take screen shots, record sessions or save chats.

If you click on no when Zoom asks if you can be recorded then the system will not allow you to participate in the session.

New for the 2023 Conference

For this year’s virtual conference, we will be using the Zoom Events platform. It has many additional features that the typical Zoom experience does not. In Zoom Events, when logged in at the virtual conference, you will have a profile that can be used for engaging with other attendees. The information in this profile can be edited, and you can hide your profile from all other attendees. If you do not do so, you will be visible on the conference attendees list by default.

*The above clip shows the desktop experience. On mobile, tap your profile picture in the top right > tap “Manage Profile” > tap “Settings & Notifications” > Under “Default Networking Mode,” scroll to the right and tap “Hide me”

Rick Frith2023-03-14T13:09:30-04:00

Male infertility due to testicular disorders

Article title: Male infertility due to testicular disorders

Author: Sharma, Minhas, Dhillo, and Jayasena

Date of Publication: December 9, 2020

“Male infertility due to testicular failure has traditionally been viewed as unmodifiable. In the absence of effective pharmacological therapies, delivery of lifestyle advice is a potentially important treatment option. Future research efforts are needed to determine unidentified factors causative in ‘idiopathic’ male infertility and long-term follow-up studies of babies conceived through ART [assisted reproductive techniques].”

Rick Frith2021-05-18T14:38:36-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Article title: Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Author: Butler

Date of Publication: April 2021

“The incidence of gynaecomastia in KS boys (overall 35.6%) is not increased over typically developing boys. Commencing testosterone when gynaecomastia develops with physiological dose escalation and full adherence can result in the resolution of the gynaecomastia.”

Rick Frith2022-02-16T12:47:54-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|