Featured Research Papers by Month

//Featured Research Papers by Month

Featured Research Papers by Month



47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

XYY Study Day Report

The focused research topic this month involves the XYY genetic signature. The two resources listed provide a good overview but are a little dated. There have been a number of research papers published in the past 4-5 years but most of these focus on one particular aspect of XYY and are often combined with other SCA conditions to show comparisons and contrasts. The attached papers here will hopefully provide a general overview for newly diagnosed kids and their families.


A New Look at XXYY Syndrome: Medical and Psychological Features

Our featured research paper for July is a focused review on XXYY  that was authored by a multi-professional team of XXYY experts led by Dr. Nicole Tartaglia from the eXtraordinarY Kids Clinic in Denver. This is an older paper but still very helpful for families with a newly diagnosed child. More research is continuing (slowly) with XXYY and we hope to see updated articles in the near future. Please take a look in the AXYS library for additional resources on XXYY in the publications and professional video sections.


Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal Versus Postnatal Diagnosis

This month’s research paper focuses on Trisomy X Syndrome (47,XXX). This is a fairly common genetic condition in females, with an estimated 1:1000 live birth frequency, almost as often as Klinefelter Syndrome in males. The paper was authored by the specialty clinic team associated with the eXtraordinarY Kids Clinic at Colorado Children’s Hospital and contains an excellent summary of the characteristics, related conditions and suggested treatment interventions.


Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline

Testosterone Therapy in Men With Hypogonadism: An Endocrine Society Clinical Practice Guideline

There are two excellent resource guides for testosterone use in androgen deficiency that have been released in the past year. One is published by the Endocrinology Society in the US and the other is from the European Society of Endocrinology. They can be very useful information guides and helpful to review questions with your personal physician.


Living with Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations

This month’s featured research paper is actually Virginia Cover’s excellent resource book that has been in the AXYS library for a number of years but we felt it was important to put it in the spotlight again for parents and individuals dealing with x and y chromosome variations. It provides invaluable information that will help you better understand these conditions and should be used to learn more about ways to support growth and development as well as teaching others (doctors, schools, family and friends) about the challenges that may be involved. We highly recommend reading this book and making sure others are aware of the information it contains.


Klinefelter Syndrome – Integrating Genetics, Neuropsychology and Endocrinology

Comprehensive and interdisciplinary research paper on recent developments in genetic, endocrine and neurocognitive science relative to KS. It contains very strong, scientific language that would be appropriate and useful in providing education and information for health professionals that are involved with care and treatment of KS individuals. AXYS strongly recommends that parents and individuals share and review this paper with their personal physicians.


Cognitive and Neurological Aspects of Sex Chromosome Aneuploidies (from thelancet.com/neurology)

This month’s paper, by Drs. Reiss and Hong at Stanford University and first published in 2014, is a strong science-based discussion on the impact of XXY and XYY on cognitive and neurological functions. It can be difficult to interpret all the information provided, but it is an excellent research article for other health and education professionals to help them understand the neurophysiology involved and why individuals with challenges may require special diagnoses and treatment. We often hear reports from families and individuals that health professionals do not seem to be aware of current research involving non-medical aspects of SCA conditions so this definitely should be shared with physicians, teachers and others involved in any treatment or support programs. It also reinforces why it can be so important to have evaluations completed at specialty clinics by experienced clinicians.


Sex Chromosome Aneuploidies (from The Handbook of Pediatric Neuropsychology)

The featured research paper this month comes from one of the top teams in the world that specialize in X and Y chromosome variations. Dr. Nicole Tartaglia and her colleagues at the eXtraordinarY Kids Clinic at Denver Children’s Hospital have been at the forefront of X and Y research for many years and have published numerous papers that have been a huge support to the X and Y community around the world. We highly recommend that everyone read the document and then share it with your personal health care providers, schools family members and others to help them better understand the condition and be able to provide the best possible support when appropriate. And as always, please contact us if you have any questions or need more information or look at the AXYS library for more papers and professional videos on topics of interest.

2018-07-31T12:21:01+00:00Categories: All Variations|Tags: |