Genetic disorder with one or more extra X chromosomes that affects males
Most common karyotype is 47,XXY.
Causes cognitive, social, behavioral, and learning difficulties (1)[C]
Adolescence: delayed or absent puberty or persistent gynecomastia; learning disabilities, psychosocial problems, psychiatric illness
Middle age: erectile dysfunction, infertility, decr...
Preventive dental care
Calcium and vitamin D supplementation
Develops secondary male sex characteristics
Increases body hair and...
Every 3 months then annual metabolic screening: lipid, glucose, and thyroid function (7,9)[C]
Annual clinical breast exam ± breast imaging
Radicioni AF, Ferlin A, Balercia G, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest. 2010;33(11):839–850.
Q98.4 Klinefelter syndrome, unspecified
Q98.1 Klinefelter syndrome, male with more than two X chromosomes
Q98.0 Klinefelter syndrome karyotype 47, XXY
Q98.5 Karyotype 47, XYY
Q98.3 Other male w...
KS males have ≥1 additional X chromosome (XXY karyotype) with associated features of hypergonadotropic hypogonadism.
Accounts for 3% of male infertility
Most men do not have “textbook fe...
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