Klinefelter syndrome

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Klinefelter syndrome

Klyapnfelter’s syndrome is a chromosomal disease, X-chromosome disomy in men. The onset of manifestations is puberty. Frequency is 1 case per 1,000 newborn boys. Genetic aspects. In 80% of boys with Kmschfelter’s syndrome, the karyotype is 47.XXY. Mosaicism in 20% of cases. Pathomorphology. Dysgenesis of the seminiferous tubules.

Clinical picture

    • Small size testicles
    • Azoospermia
    • Infertility
    • Elevated levels of gonadotropin in the urine
    • Disproportionately long legs
    • Gynecomastia.

Treatment. Androgens in the delay in the development of secondary sexual characteristics and impotence.

Synonyms

    • Dysgenesis of the seminiferous tubules
    • XXY Syndrome
    • Kleinfelter-Reifenstein-Albright syndrome ICD. Q98.0 Klinefelter’s syndrome, karyotype 47.XXY