2018 - Page 3 of 3 - The Association for X and Y Chromosome Variations

Oxandrolone Treatment Effects on Motor Function, Cognition and Behavior

Article Title: Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome

Authors: Judith L. Ross, Nicole Tartaglia, Shanlee Davis, Allan L. Reiss, et al

Date of Publication: June 2017

“This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects on cognitive function, or hyperactive or aggressive behaviors.”

Rick Frith2019-05-22T12:00:27-04:00Categories: 47,XXY (Klinefelter)|Tags: Early Testosterone Use|

Emory University Focuses on XXYY

July, 2018

One of the sex chromosome variations least understood is XXYY. While the prevalence is reported to be 1 in 18,000 to 1 in 40,000, these estimates are likely an inadequate representation of true prevalence owing to missed diagnosis and alternate diagnoses for developmental, learning and behavioral issues. While early diagnosis is improving due to pre-natal screening and pre-natal diagnosis, there remains an unaccounted number of boys and men who have this variation and may not be aware.

For families with children and adults affected by XXYY, daily challenges abound in the areas of physical health, learning, behavior and launch to adulthood. Due to lack of information informed by research, no guidelines currently exist to help guide health care providers, educators and social services for how to preserve and maintain best function and quality of life for boys, men with XXYY and their families.

Rick Frith2018-07-26T14:54:53-04:00Categories: 48,XXYY|

Emory’s Sharron Close Started Clinic for Patients with X & Y Chromosome Variations

AXYS Editor’s Note: AXYS was excited to see this article in the Atlanta Business Chronicle. Dr. Close serves as the chair of the AXYS Professional Advisory Committee and her Atlanta clinic was one of the original clinics in the AXYS Clinic & Research Consortium (ACRC). Her dedication and insight into X and Y variations was already well-known in the community and the guidance that she provides the AXYS organization is invaluable.

Rick Frith2018-06-18T21:06:33-04:00Categories: All Variations|

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|

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|