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. The study was published in The Journal of Pediatrics.

According to lead author Sharron Close, PhD, boys with Klinefelter syndrome are an under-studied and vulnerable population owing to late diagnosis, stigma, and misunderstanding about the nature of sex chromosome disorders. "The physical features of the disorder are not well known, making it difficult for pediatricians to diagnose," said Dr. Close, who conducted this study while a doctoral student at Columbia University School of Nursing. Dr. Close is currently an assistant professor of Nursing at Emory University.

The other authors of the paper include Dr. Arlene Smaldone, PhD, associate professor at the Columbia School of Nursing, Nancy Reame, PhD, the Mary Dickey Lindsay Professor of Disease Prevention and Health Promotion in the Faculty of Nursing at CUMC, and Ilene Fennoy, MD, professor of Pediatrics at CUMC.

"The development of the Klinefelter Physical Phenotype Index (KSPHI) made it possible for this study to be the first to link the physical traits of Klinefelter syndrome with psychosocial function in children," says study co-author Dr. Fennoy. "This new assessment tool will help primary care providers identify those who are at greatest risk for neuro-developmental problems."

Although Klinefelter syndrome affects approximately one in 600 males, only 10% of cases are diagnosed during childhood. The KSPHI, which is still under development, will make it easier for pediatricians to diagnose the syndrome. The KSPHI measures 13 physical traits, including tall stature, wide arm span, large waist circumference, small testes, breast tissue development, and skeletal abnormalities.

Study participants underwent physical exams and hormone analysis, and completed four questionnaires that assessed their quality of life, self-esteem, self-concept, and risk for depression. The KSPHI was used to detect the cumulative number of common physical traits in 43 males between the ages of 8 and 18 years. A subset of participants was drawn from CUMC's adolescent endocrinology clinic, which is a leading diagnostic center for Klinefelter Syndrome.

Boys with a higher number of the physical traits associated with Klinefelter syndrome reported worse quality of life than those with fewer physical manifestations of the disorder. About two-thirds of the participants with Klinefelter syndrome indicated they had a poor quality of life, while 38% had low self-esteem, 26% had a poor self-concept, and 16% were at risk for depression. Most participants reported learning disabilities, speech and language deficits, and social problems.

Surprisingly, testosterone levels were not associated with these psychological and social health measures, even though low testosterone has been widely believed to underlie many of these symptoms. "Based on this finding, it is not clear that the testosterone therapy commonly given during puberty will remedy many of the problems that children with Klinefelter syndrome experience," says Dr. Fennoy.

Whether hormonal therapy plays a role during development or not, the researchers emphasize that early intervention to address psychosocial health risks will help patients and their families manage some of the chronic aspects of Klinefelter syndrome.

Klinefelter syndrome is caused by an extra X chromosome and is one of the most common genetic causes of male infertility. It is often diagnosed when adults seek help for reproductive problems. Although infertility is the most frequent outcome of the disorder, affected individuals are also at high risk for cardiovascular disease, diabetes, osteoporosis, autoimmune disorders, and cancer.

Source:

Columbia University Medical Center

Comments

  1. Graeme Tucker Graeme Tucker New Zealand says:

    First off I am XXY, although I show none of the physical traits of KS, KS being a form of male hypogonadism, and as I have testosterone therapy I would be very disappointed if I did show any physical traits of KS.  My parents were very keen on taking photographs of their children, and I have official school photos of myself with other  boys too, and I would not have been found in childhood if the criteria here were applied then.  I was one of the shortest in my class, from 1961 to 1969, I was super skinny,  in my early teenage years I was suspected of having Anorexia.  

    43 subjects studied is not enough frankly.  It's nice idea to find XXY boys who do not have KS in childhood, as KS only manifests  after the onset of puberty, which these researchers know, so why do they insist on saying KS is a genetic disorder when in fact it's the symtoms of a disease?    I may have had very small testes in childhood, but then all boys have very small testes in childhood how can any doctor be expect to note what would be tiny differences?

    Physical traits won't find all XXY boys, nor will educational difficulty.  The absolute best way to find all XXY boys is a Barr Body test at birth.  You can still maintain your myth that XXY boys have Klinefelters' syndrome, no loss of pride there to admit you're wrong, and the boys get the assistance they need if they show they need assistance.  Then you can develop a truer model for finding  XXY boys in childhood, for countries that can afford Barr Body tests.

  2. Graeme Tucker Graeme Tucker New Zealand says:

    My last paragraph above ought to read    "Physical traits won't find all XXY boys, nor will educational difficulty.  The absolute best way to find all XXY boys is a Barr Body test at birth.  You can still maintain your myth that XXY boys have Klinefelters' syndrome, no loss of pride there to admit you're wrong, and the boys get the assistance they need if they show they need assistance.  Then you can develop a truer model for finding  XXY boys in childhood, for countries that can't afford Barr Body tests."

    For those who don't know, Barr bodies are the shadow of the inactivated X. So if you have a  child with male genitals and a Barr Body, you know you have a boy with XXY sex chromosomes, and if you have a child with female genitals and 2 Barr Bodies you know you have a girl with 3 X chromosomes.  Once the children have been identified with Barr Bodies, or extra Barr Bodies, then further more expensive, genetic testing can take place.  

    The idea that additional X's in males will lead to absolute differences physically in childhood is wrong.   If your researchers have ever been to an conference of XXY males, adults and children, and their parents you will see absolute proof such a system of discovery based on physical differences will not find all XXY's.  So why don't researchers get out of the laboratory  and into the real world, and meet the people?

  3. Karen Summers Coyle Karen Summers Coyle United States says:

    My son was also very short in childhood and is only 5'8 and thin as an adult.  But, he does have learning disabilities and cognitive issues.  Just saying that not everyone with KS is tall.

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News-Medical.Net.
Post a new comment
Post
You might also like... ×
New genetic marker linked to higher risk of premenopausal breast cancer