Klinefelter Syndrome
Synonyms
48,XXYY Syndrome
49,XXXXY Syndrome
Klinefelter Syndrome, Variants
Klinefelter Syndromes
Klinefelter Syndromes, Variants
Klinefelter's Syndrome
Klinefelters Syndrome
Syndrome, Klinefelter
Syndrome, Klinefelter's
Syndrome, Variants Klinefelter
Syndrome, XXY
Syndrome, Xxyy
Syndromes, Klinefelter
Syndromes, Variants Klinefelter
Syndromes, XXY
Syndromes, Xxyy
Trisomies, XXY
Trisomy, XXY
XXXY Male
XXXY Males
XXY Syndrome
XXY Syndromes
XXY Trisomies
XXY Trisomy
Xxyy Syndrome
Xxyy Syndromes
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.).
