National X&Y Chromosome Variation Awareness Month

May 1st kicks off National X&Y Chromosome Variation Awareness Month. This is a great time to spread awareness by educating others about your or your child’s condition. With greater awareness comes greater acceptance.

You can start by sharing information with your doctors, nurses and dentists. But don’t stop there – educate your pharmacist, school nurse, teachers, family and friends too. The more that people know, the more they will understand, and greater understanding will lead to more support for all of those with an X&Y variation.

Did you know that if we all do our part to increase awareness it will help to encourage better support from educators, educate more medical professionals, establish more specialized clinics dedicated to X&Y chromosome variations, and help to fund much needed research?

We hope you will pledge to become part of the change we all wish to see for the X&Y community.

X&Y Chromosome Variation Educational Brochures

2019 Massachusetts Proclamation declaring May as National X&Y Chromosome Variation Awareness Month

National X&Y Chromosome Variation Awareness Month Social Media Graphics to Share:

Instagram Profile Picture

Facebook Profile Picture

Rick Frith2025-04-18T14:32:53-04:00

Vocal & Gestural Productions of 24-month-old Children with Sex Chromosome Trisomies

Article Title: Vocal and gestural productions of 24-month-old children with sex chromosome trisomies

Authors: Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall’Ara, Claudia Rigamonti,Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, and Paola Vizziello

Date of Publication: January 2018

Rick Frith2018-04-25T21:20:27-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|

Klinefelter Syndrome: More Than Hypogonadism

Article Title: Klinefelter syndrome: more than hypogonadism

Authors: George A. Kanakis and Eberhard Nieschlag

Date of Publication: February 4, 2018

Rick Frith2018-04-25T20:51:49-04:00Categories: 47,XXY (Klinefelter)|

Fertility Achieved Through In Vitro Fertilization in a Male Patient with 48,XXYY Syndrome

Article Title: Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome

Authors: De‑Feng Liu, Lian‑Ming Zhao, Kai Hong, Jia‑Ming Mao, Yu‑Zhuo Yang, Zhe Zhang, Hui Jiang

Date of Publication: October 3, 2017

Rick Frith2020-03-16T12:57:54-04:00Categories: 48,XXYY|Tags: Fertility|

Questions for Webinar Presenters

Please use the form below to submit a question for an upcoming AXYS webinar.

While the presenter will do his or her best to answer as many questions as possible, not all questions will be answered during or after the webinar.

Rick Frith2018-04-20T18:47:02-04:00

Matching Grants

We don’t have any active matching grants right now, but take a look at some we’ve had in the past with the link below.

Stories of Past Matching Grants

Rick Frith2024-02-08T14:48:58-05:00

Klinefelter Syndome – Integrating Genetics, Neuropsychology, and Endocrinology

Article Title: Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk

Date of Publication: February 9, 2018

“Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role. For example, recent developments in genetics and genomics point to a fundamental change in our understanding of KS, with global epigenetic and RNA expression changes playing a central role for the phenotype.”

New Oral Testosterone Drug

A group of people representing AXYS and the Klinefelter Syndrome community traveled to Washington,
DC in early January 2018 to provide public comments at an FDA hearing related to the approval of a new
oral testosterone drug called Jatenzo.

The Clarus drug company has developed this oral pill as an alternative for men that require testosterone
replacement therapy (TRT). Currently the only options for TRT involve the use of gels, patches, injections
or pellet implants. All of these options have different challenges and difficulties that can cause some
men to become frustrated and stop following their recommended replacement plan. This can lead to
multiple physical and emotional difficulties for some KS individuals. We believe an oral alternative would
be easier for many people and would help them start and continue their TRT programs.

Rick Frith2022-02-16T13:09:10-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

Legal

Legal Resources

Individuals with an X or Y variation may, on occasion, find themselves involved with government institutions, care providers, law enforcement and/or a legal system that is unfamiliar with X and Y variations. AXYS provides the following resources for those individuals, or their families, for sharing with relevant authorities and service providers.

AXYS is not a law firm and does not provide legal or medical advice. All resource material is for information purposes only and may not reflect the most current legal or medical developments. We expressly disclaim all liability to any person with respect to the material and the consequences of anything done or omitted to be done wholly or partly in reliance upon any of the material. No one should act or refrain from acting on the basis of any material without seeking the appropriate legal or other professional advice on the particular facts and circumstances at issue.

Resource Links

AXYS Criminal Justice Task Force White Paper

Legal Issues and Challenges – Presentation Slides

Examples and Resources to Support Criminal Justice Entities in Compliance with the ADA

Journal of the American Society of Psychiatry and the Law

ARC – Criminal Justice System and Disability Advocates

ARC – National Center on Criminal Justice and Disability

Principles for Prosecutors (this paper focuses on Asperger’s Syndrome but the recommendations really apply to any Autism Spectrum condition as well as XXY and other x and y chromosome variations).

Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies

Australia Section 32 Booklet – This program is not in place in the U.S. but could be a helpful reference when talking with courts or prosecutors about the need for special consideration and options with developmentally challenged adults dealing with criminal charges. We need to be advocating for this type of program in the U.S. criminal justice system.

Disorders of Executive Functions Civil and Criminal Law Applications by Harold Hall (book)

Caught in the Web of the Criminal Justice System by Lawrence Dubin (book)

Sexual Behavior, Legal Issues and Autism Spectrum

Rick Frith2025-05-09T12:29:59-04:00