Svensk definition
En typ av manlig hypogonadism, med en extra X-kromosom, små testiklar, missbildad sädledare, förhöjda halter av gonadotropiner, låga halter serumtestosteron, svagt utvecklade sekundära könsdrag och sterilitet. Drabbade individer har ofta långa ben och slank, hög kroppsväxt. Gynekomasti ("kvinnobröst") förekommer hos många patienter. Den klassiska formen har karyotypen 47,XXY. Flera karyotypvarianter förekommer: 48,XXYY; 48,XXXY; 49,XXXXY, och mosaikmönster ( 46,XY/47,XXY; 47,XXY/48,XXXY; osv).
Engelsk definition
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.).
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Klinefelter Syndromes — Syndrome, Klinefelter — Syndromes, Klinefelter — Klinefelter's Syndrome — Klinefelters Syndrome — Syndrome, Klinefelter's — XXY Syndrome — Syndromes, XXY — Syndrome, XXY — XXY Syndromes — XXY Trisomy — Trisomies, XXY — Trisomy, XXY — XXY Trisomies — Klinefelter Syndrome, Variants — Klinefelter Syndromes, Variants — Syndromes, Variants Klinefelter — Syndrome, Variants Klinefelter — 48,XXYY Syndrome — Xxyy Syndrome — Syndromes, Xxyy — Syndrome, Xxyy — Xxyy Syndromes — 49,XXXXY Syndrome — XXXY Males — XXXY Male