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|

AXYS 2021 Virtual Family Conference: Email Communications Archive

2021 Conference Emails

April 14, 2021: Celebrate our Community

May 4, 2021: Spring 2021 Newsletter

AXYS Email Archive

Rick Frith2021-05-06T21:54:53-04:00

Epigenetics and genomics in Klinefelter syndrome

Article Title: Epigenetics and genomics in Klinefelter syndrome

Authors: Skakkebæk, Viuff, Nielsen, and Gravholt

Date of Publication: June 2, 2020

“Since the first description of Klinefelter syndrome (KS) was published in 1942 in The Journal of Clinical Endocrinology, large inter‐individual variability in the phenotypic presentation has been demonstrated. However, our understanding of the global impact of the additional X chromosome on the genome remains an enigma. Evidence from the existing literature of KS indicates that not just one single genetic mechanism can explain the phenotype and the variable expressivity, but several mechanisms may be at play concurrently. In this review, we describe different genetic mechanisms and recent advances in the understanding of the genome, epigenome, and transcriptome of KS and the link to the phenotype and clinical heterogeneity. Future studies are needed to unite clinical data, genomic data, and basic research attempting to understand the genetics behind KS. Unraveling the genetics of KS will be of clinical relevance as it may enable the use of polygenic risk scores to predict future disease susceptibility and enable clinical risk stratification of KS patients in the future.”

Rick Frith2021-03-03T15:01:38-05:00Categories: 47,XXY (Klinefelter)|

Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome

Article Title: Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females

Authors: Nielsen, Trolle, Vang, Hornshøj, Skakkebaek, Hedegaard, Nordentoft, Pedersen, and Gravholt

Date of Publication: June 3, 2020

“In conclusion, our results suggest an impact of the supernumerary X chromosome in 47,XXX syndrome on the methylation status of selected genes despite an overall comparable expression profile.”

Rick Frith2021-03-03T14:50:48-05:00Categories: 47,XXX (trisomy x)|

What microRNAs could tell us about the human X chromosome

Article Title: What microRNAs could tell us about the human X chromosome

Authors: Di Palo, Siniscalchi, Salerno, Russo, Gravholt and Potenza

Date of Publication: April 30, 2020

“MicroRNAs (miRNA) are small-non coding RNAs endowed with great regulatory power, thus playing key roles not only in almost all physiological pathways, but also in the pathogenesis of several diseases. Surprisingly, genomic distribution analysis revealed the highest density of miRNA sequences on the X chromosome; this evolutionary conserved mammalian feature equips females with a larger miRNA machinery than males. However, miRNAs contribution to some X-related conditions, properties or functions is still poorly explored. With the aim to support and focus research in the field, this review analyzes the literature and databases about X-linked miRNAs, trying to understand how miRNAs could contribute to emerging gender-biased functions and pathological mechanisms, such as immunity and cancer. A fine map of miRNA sequences on the X chromosome is reported, and their known functions are discussed; in addition, bioinformatics functional analyses of the whole X-linked miRNA targetome (predicted and validated) were performed. The emerging scenario points to different gaps in the knowledge that should be filled with future experimental investigations, also in terms of possible implications and pathological perspectives for X chromosome aneuploidy syndromes, such as Turner and Klinefelter syndromes.”

Rick Frith2021-03-03T14:31:39-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY, 48,XXXY, 48,XXYY, All Variations|

Social functioning and emotion recognition in adults with triple X syndrome (TXS)

Article Title: Social functioning and emotion recognition in adults with triple X syndrome

Authors: Otter, Crins, Campforts, Stumpel, Van Amelsvoort, and Vingerhoets

Publication Date: February 15, 2021

“Our findings indicate that adults with TXS have a higher prevalence of impaired social functioning and emotion recognition. These results highlight the relevance of sex chromosome aneuploidy as a potential model for studying disorders characterised by social impairments such as autism spectrum disorder, particularly among women.”

Rick Frith2021-02-23T13:49:23-05:00Categories: 47,XXX (trisomy x)|

CME

Continuing Medical Education

XXY – Klinefelter Syndrome: Lessons for Healthcare Providers

These narrated PowerPoint lessons were used in a CME course. That course expired in 2023. We offer these as an excellent background for healthcare providers who serve adults with XXY.