Klinefelter Syndrome

Klinefelter syndrome (KS) is a sex chromosome disorder and occurs due to the presence of an extra X chromosome in males (XXY). It is estimated that 1 in 700 to 1 in 900 live male births are affected by KS. Early research linked KS with psychiatric disorders, criminal behavior, and mental retardation. These studies had methodological concerns that impacted validity; however, many still hold to these early findings. In truth, males with KS are at risk for developmental, learning, language, and behavioral problems along with psychiatric disorders, but they are not inherently criminal.

Physical manifestations of KS result in impairment of normal genital and sexual development. Although persons with KS enter puberty at the typical age, inadequate testosterone levels prevent normal pub-ertal progress. Hypogonadism is present with a slowed development of or lack of secondary sexual characteristics. In addition, KS leads to smaller than normal testes that often contribute to infertility. Cognitive abilities range from mild mental retardation to above-average intelligence. In general, persons with KS have deficits in verbal abilities, whereas nonverbal abilities are typically in the average range. Behaviorally, individuals with KS may be reserved, withdrawn, and immature, and they are at risk for having poor peer relationships. Self-esteem problems also have been described. In contrast, they also have been described as being easygoing, underactive, compliant, and, consequently, well liked by teachers.

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