Diagnosis Of Klinefelters Syndrome

KS is unique because it can be diagnosed at almost any age: in utero, in a prepuber-tal boy, in an adolescent, or even in an adult male presenting to either a general practice or an infertility clinic. Chromosomal karyotyping of cells in amniotic fluid obtained from amniocentesis for an abnormal triple screen or for advanced maternal age will reveal KS with great accuracy. KS is suggested in prepubertal children by a testicular length of less than 2 cm after the age of 6 yr (50). Additional clues to the diagnosis of

KS in a prepubertal boy are verbal learning disabilities and taurodontism, the unusual enlargement of the pulp of the tooth seen roughly half of men and boys with KS (46). After puberty, individuals with KS will often exhibit tall stature (usually greater than 184 cm) with proportionally long legs and will frequently manifest an arm span that is greater than their height (51). In adults, the diagnosis of KS should be considered in men with gynecomastia, primary hypogonadism, infertility, or osteoporosis. Because serum testosterone levels may be normal, serum gonadotropins should also be measured. Peripheral blood karyotyping can be used to confirm the diagnosis, although this test can be negative in mosaic individuals, and tissue karyotype may be necessary (9).

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