A condition characterised by small testes with hyalinization of the seminiferous tubules, variable degrees of masculinization, azoospermia and infertility, and increased urinary excretion of gonadotropin. Patients tend to be tall, with long legs, and about half have gybecomastia. It is associated typically with an xxy chromosome complement, although variants include xxyy, xxxy, xxxxy, and several mosaic patterns (xy/xxy, xxy, xxxy, etc.).
(12 Dec 1998)