ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This longitudinal study provides an in-depth analysis of the clinical, endocrine, and testicular ultrasound (US) patterns in Klinefelter Syndrome (KS) from infancy through puberty and into adulthood, highlighting the progression of testicular degeneration in these patients.In this study, 155 KS patients with the classical 47,XXY karyotype, aged 7 months to 55 years, were prospectively evaluated at a single referral center following a stand...

Brief Summary: This clinical cross-sectional study provides new data on the neurodevelopmental aspects of Klinefelter syndrome (KS). It investigated the brain activation patterns in 43 adolescent males with KS (mean age 12.3±2.3 years) compared to an age-matched typically-developing (n=41) control group during the go/no-go task, an executive function assessment. Behavioral assessment tests, and functional magnetic resonance imaging (fMRI) were used....

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...