Clinical and diagnostic features of patients with suspected Klinefelter syndrome.

摘要: Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form hypogonadism. However, despite its relatively high frequency, syndrome often overlooked. To prevent such oversights, clinical features should be better characterized, and simple screening tests used more frequently. In a cohort 309 patients suspected having we evaluated symptoms as well diagnostic value Barr body test for procedures. On basis chromosome analysis, 85 (group I) were diagnosed 224 had 46,XY karyotype II). analysis revealed specificity 95% sensitivity 82% diagnosis syndrome. General (eg, reason admission, age, age parents, weight, frequency maldescended testes) not different between groups, except that group I higher proportion lower educational background. Compared to II, taller (P <.001); smaller testis volumes <.0001), follicle-stimulating hormone (FSH) luteinizing (LH) values; carried tendency less androgenic phenotype secondary hair distribution. Testosterone, estradiol, sex hormone-binding globulin (SHBG), prostate-specific antigen (PSA) serum levels prostate volume significantly groups. who provided ejaculate, azoospermia was found in 54% II 93% Although exclusively characteristic combination low testicular azoospermia, together elevated gonadotropins, highly indicative stimulate further investigations. provides quick reliable test, which, however, must confirmed by karyotyping.