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

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AXYS Chat Pop-in

2nd Saturday of the Month | 4-6pm Eastern Time

Start time in other regions: 3pm Central | 2pm Mountain | 1pm Pacific

AXYS Chat Pop-ins are meeting spaces for anyone 18 and up with any X and/or Y variation! We would like to stress that these meetings are intended ONLY for those with an X/Y variation.

Come hang out in an open, friendly environment. Chat with others or just check things out with no obligation to speak or be on camera. Celebrate your accomplishments and support others in their challenges.

Think of it as a room with an open-door policy; come to whatever meetings you want; come and go as you please within the 2-hour time period.

Your privacy is very important to us. AXYS will not record any of these meetings and we ask that you please respect the privacy of other attendees. We also ask that you abide by the AXYS Activities Conduct Policy: https://genetic.org/axys-activities-conduct-policy/

This meeting is not intended to be therapy and should not be used as a substitute for the services of a mental health professional.

2024-01-01T15:05:58-05:00Categories: |

AXYS Chat Pop-in

NEW SCHEDULE

2nd Saturday of the Month | 4-6pm Eastern Time

Start time in other regions: 3pm Central | 2pm Mountain | 1pm Pacific

AXYS Chat Pop-ins are meeting spaces for anyone 18 and up with any X and/or Y variation! We would like to stress that these meetings are intended ONLY for those with an X/Y variation.

Come hang out in an open, friendly environment. Chat with others or just check things out with no obligation to speak or be on camera. Celebrate your accomplishments and support others in their challenges.

Think of it as a room with an open-door policy; come to whatever meetings you want; come and go as you please within the 2-hour time period.

Your privacy is very important to us. AXYS will not record any of these meetings and we ask that you please respect the privacy of other attendees. We also ask that you abide by the AXYS Activities Conduct Policy: https://genetic.org/axys-activities-conduct-policy/

This meeting is not intended to be therapy and should not be used as a substitute for the services of a mental health professional.

2023-11-30T14:36:32-05:00Categories: |

Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Article Title: Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Authors: Foland-Ross, Ghasemi, Lozano Wun, Aye, Kowal, Ross, and Reiss

Date of Publication: August 18, 2023

“These findings indicate a neural basis for executive dysfunction in KS and suggest alterations in pubertal development may contribute to increased severity of this cognitive weakness. Future studies that examine whether these patterns change with testosterone replacement therapy are warranted.”

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2023-11-29T12:03:35-05:00Categories: 47,XXY (Klinefelter)|Tags: , |

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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AXYS Community Monthly Open House

For a link to the Zoom meeting, please email Rob & Jamie Lee at axysrockymountain@gmail.com or contact them via the Facebook group: facebook.com/groups/axysdenver

“Our proposed time for an open house on Zoom is the 2nd Tuesday of the month. We will host the room from 5-10 pm MT.”

“Come in when you can and leave when you want, we don’t expect anyone to stay the whole night, but if you feel like it you are welcome.  If this time never works for you, please tell us and we’ll find a compromise.”

“We would like to keep this group open to all X&Y variations and subgroups because we all have a lot in common.  Show up, talk about what’s going on in your life, celebrate successes, and vent about the difficult moments with people who understand. Tap into your community.”

“Separate subgroups are really helpful and we’ll make sure that everyone is made aware of the different groups. The best place to look is the support group page on the AXYS website. And we’ll be talking in the group about how to find these other groups.

Remember that if you don’t feel like you need support right now, it’s still worth showing up because you may meet someone who needs the answers that only you have.”

“Look forward to seeing you,
AXYS Rocky Mountain Chapter”
– Rob & Jamie Lee

2023-11-16T15:12:12-05:00Categories: |

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Article Title: Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review

Authors: Ricciardi, Cammisa, Bove, Picchiotti, Spaziani, Isidori, Aceti, Giacchetti, Romani, and Sogos

Date of Publication: November 9, 2022

“Our study aimed to analyse the neurocognitive, linguistic and behavioural profile of patients affected by supernumerary SCAs, specifically tetrasomy and pentasomy. We investigated the verbal abilities, both expressive and receptive, as well as the metalinguistic comprehension and attentive skills
of these patients.”

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2023-11-16T13:25:08-05:00Categories: 48,XXXY, 48,XXYY, Other Variations|Tags: , |

The emotional journey of adapting to prenatally identified trisomy X

Article Title: The emotional journey of adapting to prenatally identified trisomy X

Authors: Thompson, Tisher, Davis, Miller, Kirk, Tartaglia, and Howell

Date of Publication: August 19, 2023

“Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure.”

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2023-09-12T14:38:29-04:00Categories: 47,XXX (trisomy x)|Tags: , , , |

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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