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Klinefelterov syndróm
SYS d007713 LBL 00000cx--j22000003--45-- 005 20240119195746.0 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a Klinefelterov syndróm $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 330 1-
$a A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). $8 eng 686 $a C12.050.351.875.253.795.500 686 $a C12.200.706.316.795.500 686 $a C12.800.316.795.500 686 $a C16.131.260.830.835.500 686 $a C16.131.939.316.795.500 686 $a C16.320.180.830.835.500 686 $a C19.391.119.795.500 686 $a C19.391.482.629 750 $a Klinefelter Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070223 820 $a index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS $8 eng 980 $x M
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