Promoting Early Genetic Screening for 47,XXY Based On Early Intervention and Emerging Treatment Options

Background: 47,XXY commonly known as Klinefelter syndrome (KS) is the most common male sex chromosome aneuploidy. The syndrome is characterized by hypotonicity, developmental delays, learning disabilities, and psychosocial problems during infancy/childhood and low testosterone production (hypogonadism) in adolesence/adulthood. Untreated, adolescents and adults may develop gynecomastia, osteoporosis and most commonly, infertility. The current standard of care offers treatment for KS at the onset of puberty for boys following molecular diagnosis.
Source: Journal of Pediatric Nursing - Category: Nursing Authors: Source Type: research