Developing a new tool to detect a frequently missed sex chromosome disorder in boys

August 25, 2015, Columbia University Medical Center
Facts on Klinefelter syndrome were compiled by Columbia researchers. Credit: Columbia University Medical Center

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."

Credit: Columbia University Medical Center

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.

A comparison of the frequency of Klinefelter Syndrome to other chromosomal disorders. Source: CDC. Credit: Columbia University Medical Center

Boys with a higher number of the 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.

Explore further: New biomarker identified in women with mental illness

More information: The Journal of Pediatrics paper is titled, "Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome." www.jpeds.com/article/S0022-34 … (15)00675-7/abstract

Related Stories

New biomarker identified in women with mental illness

June 19, 2015
Psychiatric disorders can be difficult to diagnose because clinicians must rely upon interpreted clues, such as a patient's behaviors and feelings. For the first time, researchers at University of California, San Diego School ...

Physical training helps women with polycystic ovary syndrome

May 19, 2015
Women with polycystic ovary syndrome, a hormonal disorder that affects 5% to 10% of the female population of fertile age, often experience sexual dysfunction and low self-esteem, but a new study shows that physical resistance ...

Genome sequencing illuminates rare Aicardi syndrome

July 2, 2015
As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. Instead, I'm drawn ...

Recommended for you

App helps hearing-impaired parents know when and why their baby is crying

May 23, 2018
For parents Delbert and Sanaz Whetter a crying baby is a particularly difficult challenge. The Whetters are deaf, so when they're in another room they rely on cameras and remote noise-monitors to help keep an eye on their ...

Pregnancy drug DES might have triggered ADHD in the grandchildren of women who used it

May 21, 2018
A study conducted by researchers at Columbia University's Mailman School of Public Health and Harvard T.H. Chan School of Public Health reported elevated odds for attention deficit hyperactivity disorder (ADHD) in the grandchildren ...

Age-related racial disparity in suicide rates among US youth

May 21, 2018
New research suggests the suicide rate is roughly two times higher for black children ages 5-12 compared with white children of the same age group. The study, funded by the National Institute of Mental Health (NIMH), appears ...

One in 10 parents say their child has gotten sick from spoiled or contaminated food

May 21, 2018
No parent wants to come home from a picnic or restaurant with a little one whose stomachache turns into much worse.

Infant growth patterns affected by type of protein consumed

May 14, 2018
A new study by CU School of Medicine researchers has determined that choices of protein intake from solid foods has a significant impact on infant growth during the first year of life.

Parents say intense gun violence in PG-13 movies appropriate for teens 15 and older

May 14, 2018
Parents are more willing to let their children see PG-13 movies with intense gun violence when the violence appears to be "justified," used in defense of a loved one or for self-protection, than when it has no socially redeeming ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.