Library - Page 16 of 34 - The Association for X and Y Chromosome Variations

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|

Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies

Article Title: Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies

Authors: David S. Hong and Allan L. Reiss

Date of Publication: March 2014

Estate Planning for Individuals with Special Needs: An Introduction

Presentation video/slides from the September 2017 meeting of the AXYS Southeastern Support Group, Atlanta, Georgia

echo360.org/media/9da99351-82d9-4cdb-b9d5-88ea51f654b1/public

Presented by Heather Nadler and Mark Biernath

Rick Frith2018-05-30T19:53:28-04:00Categories: All Variations|

XXYY Sibling Project

Brothers and sisters of boys and men with XXYY share what it means to grow up with XXYY.

Watch the video

Rick Frith2017-10-11T21:26:10-04:00Categories: 48,XXYY|

Quality of Life in Men with Klinefelter Syndrome: The Impact of Genotype, Health, Socioeconomics, and Sexual Function

Article Title: Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Authors: Anne Skakkebæk, MD, PhD, Philip J. Moore, MS, Simon Chang, MD, Jens Fedder, MD, PhD, and Claus H. Gravholt, MD, DMSc

Date of Publication: July 2017

“…relatively little attention has been paid to QoL in men with KS, or the factors that may determine it. In two studies to date, boys and men with KS were found to have a lower QoL than non-KS males in population-based samples. KS phenotype severity was also negatively associated with QoL among boys. In a third study, KS status was correlated with lower psychosocial well-being, which was associated with lower levels of employment and social support, and greater disease severity.”