Klinefelter’s syndrome

Klinefelter’s syndrome is an endocrine disease that affects approximately 1 in 1000 males and it is usually associated with 47XXY karyotype. The principal pathological abnormality is dysgenesis of the seminiferous tubules. During adolescence fibrosis are present within seminiferous tubules resulting in hypogonadism. The diagnosis of Klinefelter’s syndrome is made in adolescents who have presented with gynaecomastia and failure to progress normal puberty and also results in androgen deficiency with lack of closure in puberty. But clinical features of this disease are wide and some patients, especially those with 46XY/47XXY chromosomes. The individuals who are affected by this disease should do the karyotype analysis.