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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

47,XYY

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Article title: Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX

Author: Alan D. Rogol

Date of Publication: August 1, 2023

“Assisted reproductive technology, especially micro-testicular sperm extraction, has an important role, especially for those with 47,XXY; however, more recent data show promising techniques for the in vitro maturation of spermatogonial stem cells and 3D organoids in culture. Assisted reproductive technology is more complex for the female, but vitrification of oocytes has shown promising advances.”

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Executive Director Carol Meerschaert Celebrates 5th Anniversary at AXYS

I am excited to have celebrated my 5th anniversary as the Executive Director of AXYS on October 8th, marking five years of incredible accomplishments for our organization. I am extremely proud of what we have achieved together during this time, and want to take a moment to highlight some of our key milestones:

Financial: I meticulously examined every expense, forged relationships with cost effective vendors, chose less expensive yet feature rich software platforms, and improved our practices, resulting in annual savings of $25,000 for AXYS.

    • I revamped our financial practices, adding checks and balances to assure accurate accounting. We switched banks allowing us to earn interest on our cash reserves and receive cashback benefits on our credit card.
    • A fund was created that, with continued dedication and hard work, will eventually serve as an endowment, ensuring financial stability for AXYS during challenging times.
    • Since the beginning of the century, AXYS ended the year net negative 10 times. AXYS has not seen a single year with negative net revenue during my tenure.

Expanded Outreach: We expanded our reach by adding dedicated website sections for Mosaic and XXXY variations. Additionally, we welcomed our first board member representing the XXXY community and offered support groups for Mosaic and XXXY during the 2023 virtual conference.

Diversity and Inclusivity: We prioritized board member diversity, now including BIPOC and LGBTQ+ board members, as well as 3 adults with an X or Y variation. We have also introduced support groups and conference sessions for these diverse groups, along with valuable research on gender, sexuality, and other critical topics.

Adaptability: We successfully navigated the challenges posed by the pandemic by pivoting from in-person to virtual programming, ensuring our services continued to reach those who need them. We created innovative chats, a Family Game Night, a week-long AXYS Summer Camp and a virtual conference.

ACRC Expansion: The AXYS Clinical and Research Consortium (ACRC) doubled from 9 clinics when I started to 18 today; half of these clinics serve adults.

We added the clinical researchers to our consortium. They do not see patients as a typical clinic would—they dedicate their professional lives to helping us understand more about X and Y variations.

GALAXY Registry: AXYS supports the GALAXY Registry, a project that has long been on the wish list. AXYS offers both financial support and oversight as AXYS community members serve on the steering committee.

Stewardship and Development: Recognizing the need to secure substantial gifts, I initiated a focused effort on stewardship and development. This effort bore fruit in July, when AXYS received two major gifts, making it a record-breaking month for us.

Cost-Efficient Website Revamp: We revamped our website at zero additional cost, a remarkable achievement considering the $10,000 price tag of our last redesign. Thanks to all of the community members from every variation who contributed their input on dozens of Zoom calls, surveys, and messages, assuring the website content is up-to-date and meets the needs of each part of our community.

Kudos to Richard Frith for all of the work he did on the update, while still serving as communications manager, tech lead and all-around support for AXYS. Rick is amazing!

I extend my heartfelt appreciation to our dedicated board members, support group leaders, Helpline volunteers, and everyone who selflessly contributes to support the AXYS community. I eagerly anticipate the journey ahead, and with your unwavering support, we will continue to make strides toward our mission.

Our work remains unfinished until every individual with an extra X or Y chromosome is aware of their condition, every medical professional comprehends X and Y variations and the unique care needs, every teacher provides the best education our community deserves, and no one faces discrimination or negativity because of their X or Y variation.

Thank you for being part of this remarkable journey, and here’s to many more years of progress and success.

Sex Chromosome Dosage Effects on White Matter

Article Title: Sex Chromosome Dosage Effects on White Matter

Authors: Warling, Yavi, Clasen, Blumenthal, Lalonde, Raznahan, and Liu

Date of Publication: June 12, 2021

“These findings represent the most complete maps of X- and Y-chromosome effects on human white matter to date, and show how such changes connect to psychopathological symptoms and gray matter anatomy.”

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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Article Title: Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Authors: Howell, Buchanan, Davis, Miyazawa, Furuta, Tartaglia, and Nguyen

Date of Publication: September 9, 2021

“The findings of this chart review demonstrate the importance for the community affected by SCA conditions to have an increased awareness of the variable presentations of eosinophilic esophagitis (including coping strategies), especially among different age groups and in the context of neurodevelopmental problems, the need for specific screening for EoE symptoms, and referral to GI for evaluation and treatment. Such clinical knowledge and action can facilitate diagnosing EoE as early as possible and improve quality of life, symptom management, and limit progression of severity for patients.”

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Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Article Title: Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

Authors: Berry, Finucane, Myers, Abril, Kirchner, Ledbetter, Martin, and Oetjens

Date of Publication: January 17, 2023

“Adults with supernumerary sex chromosome aneuploidies compared with 2 sex chromosomes had a small but statistically significant increased risk of VTE. Further research is needed to understand the clinical implications of this association.”

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2023-05-23T14:23:18-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Article Title: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling

Authors: Jodarski, Duncan, Torres, Gore, Raznahan, and Similuk

Date of Publication: January 7, 2023

“XYY syndrome is a diagnosis that has significant implications on not only the affected individual, but the family as well. It is therefore imperative that HCPs fully understand the range of lived experiences with XYY so that we can better counsel and care for affected individuals and their families.”

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2023-04-13T11:03:45-04:00Categories: 47,XYY|Tags: , , |

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Article Title: Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Authors: Raznahan, Rau, Schaffer, Liu, Fish, Mankiw, Xenophontos, Clasen, Joseph, Thurm, Blumenthal, Bassett, and Torres

Date of Publication: February 20, 2023

“Across the full XYY group, we find a complex correlation between psychopathology and functioning such that the most severely impacted symptom domains are not necessarily those most predictive of adaptive functioning or caregiver strain. Finally, network modelling suggests 8 main axes of psychopathology in XYY syndrome, with core roles for overall symptom scores, inattention, and social difficulties.”

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Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Article Title: Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study

Authors: Sánchez, Montalbano, Vaez, Krebs, Byberg-Grauholm, Mortensen, Børglum, Hougaard, Nordentoft, Geschwind, Buil, Schork, Thompson, Raznahan, Helenius, Werge, and Ingason

Date of Publication: February 2023

“Increased risks of psychiatric disorders associated with sex chromosome aneuploidies, combined with low rates of clinical diagnosis of sex chromosome aneuploidies, compromise the adequate provision of necessary health care and counselling to affected individuals and their families, which might be helped by increased application of genetic testing in clinical settings.”

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Variegation of autism related traits across seven neurogenetic disorders

Article Title: Variegation of autism related traits across seven neurogenetic disorders

Authors: Lee, Niu, Zhang, Clasen, Kozel, Smith, Wallace, and Raznahan

Date of Publication: April 7, 2022

“Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs.”

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Patterns of psychopathology and cognition in sex chromosome aneuploidy

Article Title: Patterns of psychopathology and cognition in sex chromosome aneuploidy

Authors: Rau, Whitman, Schauder, Gogate, Lee, Kenworthy, and Raznahan

Date of Publication: December 15, 2021

“There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.”

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