false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
PPM - Klinefelter Syndrome (KS)
Description and References
Description and References
Back to course
Pdf Summary
This document is a summary of guidelines for the diagnosis and clinical management of Klinefelter Syndrome (KS) patients over the age of 6 years. Klinefelter Syndrome is a common sex chromosome abnormality affecting newborn males, with a prevalence of approximately 1 in 660. The phenotype of individuals with KS is variable, but some consistent features include primary testicular failure, reduced testicular volume, tall stature, central adipose distribution, and various psychosocial, behavioral, developmental, and learning difficulties.<br /><br />The document references several sources that provide further information on the topic. For example, Aksglaede et al. discuss the clinical characteristics of 47,XXY Klinefelter Syndrome and provide age-specific recommendations for medical management. Wosnitzer and Paduch focus on endocrinological issues and hormonal manipulation in children and men with KS. Bearelly and Oates review recent advances in managing and understanding KS. Lastly, Zitzmann et al. present the European Academy of Andrology guidelines on KS, endorsing organizations include the European Society of Endocrinology: Andrology.<br /><br />The learning objectives of this module are to evaluate the clinical diagnosis of individuals with KS and to assess the appropriate use of guidelines for clinical management of the disorder. This summary serves as an introduction to the topic and provides references to more in-depth resources for those interested in further exploration of Klinefelter Syndrome.
Keywords
Klinefelter Syndrome
diagnosis
clinical management
sex chromosome abnormality
newborn males
prevalence
testicular failure
tall stature
psychosocial
learning difficulties
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×