Number of the records: 1  

Klinefelterov syndróm

  1. Record numberd007713
    Date06.06.2025
    TypeM
    Topical termKlinefelterov syndróm
    UDCC12.050.351.875.253.795.500C12.200.706.316.795.500C12.800.316.795.500C16.131.260.830.835.500C16.131.939.316.795.500C16.320.180.830.835.500C19.391.119.795.500C19.391.482.629
    NoteA 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.).
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Number of the records: 1  

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