Klinefelter's syndrome (KS) results from a genetic deficiency (kariotype 47,XXY) that can lead to hypergonadotropic hypogonadism, azoospermia and underdevelopment of secondary sex characteristics. The exact mechanism that determines the androgenic deficiency is not yet understood, and the degree of Leydig cell dysfunction is variable. KS is a chronic disease with serious repercussions over the male reproductive system and also an important cause of infertility worldwide. We report on a 33 year-old male patient with progressive bilateral and painful gynecomastia, hypergonadotropic hypogonadism and associated emotional disturbances. The presence of signs and symptoms of androgen deficiency along with the demonstration of a 47,XXY kariotype led to the diagnosis of KS involving the patient in an uncommon syndrome of infertility and feminization and its biopsychosocial implications.
Hypergonadotropic hypogonadism; Infertility; Klinefelter's syndrome