AbstractTurner's syndrome is the most common cause of primary amenorrhea seen in clinical practice. The syndrome is characterized by absence of one X chromosome [45X0]. About 50% of the Turner syndrome have mosaic forms such as 45X0/46XX or 45X0/46XY. In a female presenting with primary amenorrhea or short stature, possibility of Turner's syndrome must be ruled out. Turner's syndrome is the only monosomy compatible with life. Patients face manifold difficulties which increase over the lifespan. It is also the most common aneuploidy in first trimester losses. Incidence of Turner's syndrome is estimated to be 1 in 2500. Estrogen therapy is indicated lifelong in a patient with Turner's syndrome.
Keywords: Turner's syndrome; Amenorrhea; Karyotype; Short Stature; Estrogen.