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Early detection linked to improved quality of life in boys with Klinefelter Syndrome

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The psychosocial well being of individuals with Klinefelter Syndrome could be improved with diagnosis in early childhood, according to a study led by researchers at Emory University’s Nell Hodgson Woodruff School of Nursing.

In a paper in the July 2015 issue of the Journal of Pediatrics, Sharron Close, PhD, CPNP-PC, Emory assistant professor of nursing, analyzed the link between physical traits and psychosocial health in boys 8 to 18 years of age with Klinefelter Syndrome (KS).  Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Depending on the degree of phenotypic abnormality, young males with KS may be at risk for impaired quality of life.

According to the author, while the prevalence of KS is estimated to be 1 in approximately 500 male births, it is not often diagnosed during childhood due to physical traits that are unrecognized during routine health maintenance visits. 

Using an investigator-developed descriptive cumulative trait index known as the Klinefelter Physical Phenotype Index (KSPHI), the research team assessed the physical examinations, hormone analysis, psychosocial health questionnaire and additional data to characterize the link between psychosocial well being, physical phenotype and sex hormones among the male demographic KS.

“Our study found that characteristic traits such as tall stature, wide arm span, long legs, increased waist circumference, small testicular volume and other factors can be identified in childhood and may lead to a high index of suspicion for genetic testing if recognized by a health care provider,” explains Close. “In general, men with KS are at risk for low self-esteem low self-concept, lower quality of life, and increased risk for depression.”

“Findings of this study show that the risks associated with KS are identifiable during childhood and that a greater number of physical traits were associated with lower quality of life,” she says. “It is very important that health care providers’ recognize the phenotype earlier on in order to request genetic testing to confirm diagnosis. Early diagnosis is the gateway to initiating psychosocial interventions for the child, family and school to improve quality of life and to minimize psychosocial risks.” 

Complete findings are available at:


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