Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …

Abstract Background Knowledge about Klinefelter syndrome (KS) has increased
substantially since its first description almost 80 years ago. A variety of treatment options …

Highlights•Sex development depends on spatio-temporal sequence & coordination of
mutually antagonistic activating & repressing factors.•Disorders of sex development can be …

Sex chromosome aneuploidies comprise a relatively common group of chromosome
disorders characterized by the loss or gain of one or more sex chromosomes. We discuss …

Objectives To examine the effects of early low-dose androgen on motor, cognitive, and
behavioral function in prepubertal boys with Klinefelter syndrome (47, XXY). Study design …

Purpose Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is
associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular …

Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY
syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a …

Context Boys with XXY have greater adiposity and a higher risk of cardiovascular disease.
Infants with XXY have lower testosterone concentrations than typical boys, but no studies …

Background Genetic testing of children with autism spectrum disorder (ASD) is now standard
in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) …

Although Klinefelter syndrome (KS) is common, it is rarely recognised in childhood,
sometimes being identified with speech or developmental delay or incidental antenatal …