Klinefelter Syndrome Is the Most Common Sex-Chromosome Disorder


A recent review article summarized the socioeconomic consequences of Klinefelter syndrome, which is the most frequent chromosomal aberration in humans and is associated with hypogonadism and neurocognitive deficits.

A review in the June 2015 issue of Current Opinion in Endocrinology & Diabetes and Obesity summarized the socioeconomic consequences of Klinefelter syndrome, the most frequent chromosomal aberration in humans. Although approximately 1 in 660 men are affected, the authors reported that clinicians often miss this diagnosis and only 25% of affected individuals are aware they have it. Klinefelter syndrome’s genetic anomaly is 2 or more X chromosomes in males. Its hallmark symptom is infertility, but it is more and more apparent that neurocognitive deficits specific to Klinefelter syndrome are concerning. With that in mind, these researchers examined the socioeconomic status of patients with known Klinefelter syndrome.

Men who have Klinefelter syndrome tend to have small testes, hypergonadotropic hypogonadism, and may have cognitive impairment. They often score significantly lower than education-matched controls in cognitive tests, with verbal skills usually most heavily affected. This creates a need for speech therapy and predisposes patients to learning disabilities.

In previous work, these authors identified a personality profile associated with Klinefelter syndrome typified by higher levels of neuroticism and lower levels of extraversion, openness, and conscientiousness than normal males. These patients have 3.65 times the risk of hospitalization with a psychiatric disorder, so neuropsychological treatment could help many patients.

Many men with Klinefelter syndrome find school challenging and do not graduate or excel with their peers, leading to life-long low-income and forced early retirement. Many studies have looked at criminality in these patients, finding increased absolute risk of perpetrating and being prosecuted for sexual abuse, arson, burglary and other offenses.

Early testosterone replacement therapy appears to lessen hypogonadism’s acute and long-term consequences.

Young men with Klinefelter syndrome need their healthcare providers to take approaches that encompass more than just the obvious signs and symptoms, with heightened awareness of potential long-term, profound implications. The researchers note that more studies are needed to help identify men with Klinefelter syndrome early, and more importantly, identify early interventions to help them thrive.

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