Klinefelter Syndrome
Klinefelter's Syndrome isn't rare - but it is rarely diagnosed - Klinefelter’s Syndrome Association
image by: Living with XXY
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Ryan’s Mission to Build a Klinefelter Community
When Ryan Bregante sees statistics estimating that 1 in 500 males has the extra X chromosome that causes Klinefelter syndrome (KS), he is acutely aware of his minority status as the “1” in that equation. Another statistic is ever present to him as well: as far as researchers have been able to determine, only some 3 in 10 males with Klinefelter even know they have the condition.
That makes Bregante a minority of a minority, because unlike the 70 percent of males who must deal with the challenges posed by KS without any context for understanding their source, Bregante has known about his extra X since he was 9 years old. That’s when his parents, in consultation with his pediatrician,…
Resources
Klinefelter syndrome: many men have an extra X chromosome – but it is rarely diagnosed
The genetic condition is one of the most common in the UK and may be a leading cause of infertility in men. Why does it so often go untreated?
New Testosterone Pill Isn't Intended For Aging Men
Unfortunately for them, the agency says that the newly approved drug, Jatenzo (testosterone undecanoate; Clarus Therapeutics) isn’t for age-related testosterone declines. Instead, it’s intended to treat people who have hypogonadism because of less common causes, such as tumors of the pituitary gland or Klinefelter’s syndrome. This form of testosterone was previously approved as an injectable, Aveed (Pfizer).
Illuminating Klinefelter syndrome
The prevalence of KS ranges from 85 to 250 per 100,000 live born males, with significant underdiagnosis especially before adulthood due to the complexity and variation of its clinical manifestations
Klinefelter Syndrome and 47,XXY – Same or Different?
Some non-medical people would prefer to use these terms differently, but this is not how it is recognized by the medical or research communities…..KS and 47,XXY remain synonymous.
Klinefelter Syndrome—A Clinical Update
Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.
Klinefelter’s syndrome: being unable to produce testosterone has serious implications for men
Klinefelter’s syndrome is the most common form of hypogonadism, where men are unable to produce sperm or sufficient levels of the male sex hormone, testosterone. The low levels of testosterone result in the underdevelopment of typical male characteristics.
The Havoc of an Undetected Extra Chromosome
It is a leading genetic cause of male infertility. Yet nearly two-thirds of boys and men who have Klinefelter's do not know it, and many live out their lives never suspecting that they have an extra chromosome.
The role of hypogonadism in Klinefelter Syndrome
Klinefelter syndrome (KS) (47, XXY) is the most abundant sex-chromosome disorder, and is a common cause of infertility and hypogonadism in men. Most men with KS go through life without knowing the diagnosis, as only 25% are diagnosed and only a few of these before puberty.
This Simple Blood Test Reveals Birth Defects — And the Future of Pregnancy
Many women with high-risk pregnancies (which also includes women over 35) elect to undergo amniocentesis or chorionic villus sampling—invasive procedures that check for chromosomal abnormalities but carry with them a risk of miscarriage. Weiss says there was "no way in hell" she was going to do that. She didn't want to risk losing another baby. Well, said her doctor at her 10-week office visit, we've got this new test that checks for the most common chromosomal disorders (like Down syndrome). All it requires is a blood draw.
Ryan’s Mission to Build a Klinefelter Community
When Ryan Bregante sees statistics estimating that 1 in 500 males has the extra X chromosome that causes Klinefelter syndrome (KS), he is acutely aware of his minority status as the “1” in that equation. Another statistic is ever present to him as well: as far as researchers have been able to determine, only some 3 in 10 males with Klinefelter even know they have the condition.
Klinefelter Syndrome Australia
A Queensland charity supporting individuals diagnosed with XXY.
Klinefelter’s Syndrome Association
We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome.
Living with XXY
The purpose of Living with XXY is to inspire people and families living with Klinefelter syndrome 47 XXY. With a focus on the positive traits and successes of individuals across the spectrum, we will work to build a community through awareness, education.
XXY'ers
Our stories might all be a little bit different but at the heart of things we’re all touched by the same story. We are or know someone or are the parent of a child with XXY / Klinefelter’s Syndrome. Some of us have known all our lives while others learned about our chromosomes as tried for children or perhaps had a health issue that highlighted the diagnosis.
Australian X and Y Spectrum Support
AXYS Australia provides support and information to individuals with X and Y chromosome variations
Genetics Home Reference
In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.
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