AXYS 2021 Virtual Family Conference: Email Communications Archive
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.”
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.”
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.”
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.”
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.
Course Introduction
Lesson 1 | History, Prevalence, Phenotype
Lesson 2 | Diagnosis
Lesson 3 | Physical and Mental Comorbidities
Lesson 4 | Multidisciplinary Health Management
Lesson 5 | Fertility Treatment
Image credit: Kristen Gee, Noun Project
Social Management Training in Males With 47,XXY (Klinefelter Syndrome)
Article Title: Social Management Training in Males With 47,XXY (Klinefelter Syndrome): A Pilot Study of a Neurocognitive-Behavioral Treatment Targeting Social, Emotional, and Behavioral Problems
Authors: Martin, Van Rijn, Bierman, and Swaab
Date of Publication: January 1, 2021
“Klinefelter syndrome (47,XXY) is associated with problems in social interaction and behavioral adaptation. Sixteen adolescents and adult men with 47,XXY enrolled in a pilot study evaluating the effectiveness of Social Management Training (SMT), a novel neurocognitive-behavioral treatment program targeted at improving social, emotional, and behavioral functioning. Participants reported improved emotional stability from pre- to post-test (5 months). Informants reported reductions in internalizing and externalizing symptoms, including improvement in self-regulation. Although informants did not report changes in autism-like symptoms, increased awareness of social challenges was found. SMT may improve emotional stability, self-regulation, and self-reflection in people males with Klinefelter syndrome. This potentially efficacious treatment approach may prove to be a promising psychosocial therapeutic intervention for this population.”
2021 AXYS Family Conference: Attendee Registration
Attendee Registration
Use this link to purchase your household ticket for the conference. You only need one ticket for your entire household: axysgenetic.networkforgood.com/events/26219-axys-2021-virtual-family-conference.
If you are able to sponsor others, please add scholarship tickets too. We thank you for your generosity!
We know that not everyone who wants to participate in the conference is able to afford purchasing a ticket, so we have created a scholarship program. Use this link to send a request to be considered for a scholarship ticket. The number of scholarships is limited so please only request this if you truly cannot afford the ticket price.
Please also see our Financial Assistance Resources page as you may be able to have your ticket funded by groups in your community.
Coming Soon!
This page is a work in progress
From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis (KS)
Article Title: From mini‐puberty to pre‐puberty: early impairment of the hypothalamus-pituitary-gonadal axis with normal testicular function in children with non-mosaic Klinefelter syndrome
Authors: Spaziani, Granato, Liberati, Rossi, Tahani, Pozza, Gianfrilli, Papi, Anzuini, Lenzi, Tarani, and Radicioni
Date of Publication: May 6, 2020
“Purpose Klinefelter syndrome (KS) is a genetic disorder caused by the presence of an extra X chromosome in males. The aim of this study was to evaluate the hypothalamic–pituitary–gonadal (HPG) axis and the clinical profile of KS boys from mini-puberty to early childhood…Conclusions No hormonal signs of tubular or interstitial damage were found in KS infants. The presence of higher levels of gonadotropins, INHB and testosterone during mini-puberty and pre-puberty may be interpreted as an alteration of the HPG axis in KS infants.”