Klinefelter Syndrome News and Research

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Klinefelter syndrome, also known as XXY syndrome, is a genetic disorder that involves an additional X sex chromosome in males. Physiologically, males inherit one X chromosome from their mothers and one Y chromosome from their fathers and thus possess XY. Males with Klinefelter syndrome have an additional X chromosome that is inherited from either the mother or the father and therefore have XXY.

Veteran study reveals medical challenges in men with Klinefelter and Jacobs syndromes

Researchers at the University of Colorado Anschutz Medical Campus and collaborators across the country have conducted the largest and most diverse study of men with extra X or Y chromosomes in the US using a large dataset of military veterans.

29 Mar 2024

Xist lncRNA identified as key trigger in female-biased autoimmune diseases

Researchers uncover that the Xist ribonucleoprotein complex, unique to females, is a key driver of sex-biased autoimmunity, offering new insights into autoimmune disorders' higher prevalence in women.

4 Feb 2024

Ancient DNA reveals first prehistoric cases of Turner and Jacob's syndromes

Ancient DNA reveals first prehistoric cases of Turner and Jacob's syndromes, with new technique enhancing chromosome analysis

13 Jan 2024

Key gene linked to male bias in autism, Tourette's, and ADHD uncovered

Sex bias in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS).

8 Dec 2023

Chromosomal microarray analysis could help identify the cause of SIDS or SUDC in older children

A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained death in childhood (SUDC), finds a study led by Boston Children's Hospital.

7 Nov 2022

Invasive breast cancer risk in men may be linked to self-reported infertility

The risk of invasive breast cancer in men may be associated with self-reported infertility in the male partner finds a study published in the open-access journal Breast Cancer Research.

17 May 2022

FDA approves new oral treatment for men with certain forms of hypogonadism

The U.S. Food and Drug Administration today approved Jatenzo (testosterone undecanoate), an oral testosterone capsule to treat men with certain forms of hypogonadism.

27 Mar 2019

Hormone lab tests not necessary for most teens with gynecomastia

Routine assessment by an endocrinologist and laboratory tests to measure hormone levels aren't necessary in most adolescent boys with gynecomastia, concludes a study in the July issue of Plastic and Reconstructive Surgery, the official medical journal of the American Society of Plastic Surgeons.

30 Jun 2018

NIH researchers unravel how male, female mouse embryos acquire sex-specific reproductive systems

A protein called COUP-TFII determines whether a mouse embryo develops a male reproductive tract, according to researchers at the National Institutes of Health and their colleagues at Baylor College of Medicine, Houston.

17 Aug 2017

New assessment tool under development can help detect physical traits of Klinefelter syndrome

Klinefelter syndrome is the most common disorder of the male sex chromosomes, yet is rarely diagnosed in children. A new assessment tool is being developed by researchers at Columbia University Medical Center (CUMC) to help pediatricians detect the physical traits of the syndrome. The tool could pave the way for early interventions that prevent and treat a range of physical, psychological, social, and cognitive impairments.

26 Aug 2015

EU research project seeks to improve care for patients with adrenal and gonadal hormonal imbalances

The Charité - Universitätsmedizin Berlin is now commencing a new EU research project, dsd-LIFE, to improve clinical care in individuals suffering from hormonal disorders of the gonads and adrenals.

30 Oct 2013

JS Genetics announces availability of XCAT-KS buccal swab test

JS Genetics announces the availability of XCAT-KS, its proprietary buccal swab test for the diagnosis of Klinefelter syndrome (KS) and other male sex chromosome aneuploidies.

3 May 2012

Study highlights need for greater recognition of sexual and reproductive healthcare needs of teen boys

Two newly published reports by investigators at the Johns Hopkins Children's Center highlight the need for greater recognition of the sexual and reproductive healthcare needs of teen boys and enumerate the essential services this traditionally overlooked group should receive at least once a year.

9 Dec 2011

March of Dimes honors Whitehead Institute Director for Developmental Biology work

Whitehead Institute Director David Page has been named a recipient of the 2011 March of Dimes Prize in Developmental Biology. The prize honors Page's groundbreaking body of research on the human Y chromosome.

22 Apr 2011

Choice between late-term abortion or keeping an unhealthy foetus

Most pregnant women whose foetus is proven to have a genetic abnormality choose to have an abortion, but reaching that decision is a painful, exhausting process for most of them. "The women's doubt, pain and sorrow make abortion more moral - in the eyes of society as well as her own," says Sølvi Marie Risøy, a researcher at the Stein Rokkan Centre for Social Studies, University of Bergen.

23 Jul 2010

Patients with chronic conditions need support to re-enter employment

A new study has identified a significant shortfall in patients with life-long but treatable conditions re-entering employment. The research is being presented at the annual Society for Endocrinology BES meeting in Manchester.

17 Mar 2010

Cytoskeleton plays a critical role to bring chromosome pairs together: Study

Meiosis - the pairing and recombination of chromosomes, followed by segregation of half to each egg or sperm cell - is a major crossroads in all organisms reproducing sexually. Yet, how the cell precisely choreographs these chromosomal interactions is a long-standing question.

16 Nov 2009

Researchers capture never before seen undulations of "dancing chromosomes"

The rhythm of life may beat far deeper than anyone previously thought. And it may gyrate and pulse in a way that rivals the sensuous choreography of "Dirty Dancing."

12 Dec 2008

Link found between cryptorchidism and genetic mutations

A small percentage of males born with cryptorchidism (failure of one or both testicles to descend into the scrotum), the most frequent congenital birth defect in male children, are more likely to have genetic mutations, including for a syndrome that is a common genetic cause of infertility, according to a study in the November 19 issue of JAMA .

18 Nov 2008

Low levels of dietary folate linked to sperm abnormalities

Healthy men who report lower levels of the nutrient folate in their diets have higher rates of chromosomal abnormalities in their sperm, according to a new study by researchers at the University of California, Berkeley, and the Lawrence Berkeley National Laboratory.

20 Mar 2008