Klinefelter Syndrome: Things you should know (Questions and Answers)

The text describes how an extra X chromosome in males leads to Klinefelter syndrome and presents other forms such as mosaic Klinefelter and variants with multiple X chromosomes. It explains genetic mechanisms including nondisjunction and karyotyping.

Topics include infertility, hypogonadism, gynecomastia, osteoporosis, diabetes mellitus, hypothyroidism, cardiac and ophthalmic issues, and autoimmune diseases such as lupus and rheumatoid arthritis. Developmental and social aspects such as speech delay, dyslexia, dyspraxia, and anxiety are also addressed.

Diagnostic methods include prenatal testing with amniocentesis and chorionic villus sampling, as well as postnatal chromosome analysis. Treatment options such as testosterone replacement therapy, fertility treatments, and supportive care with speech, occupational, and physical therapy are discussed.

This book will interest students, health science learners, and those studying genetics and endocrinology who want to understand Klinefelter syndrome and its medical and developmental features.