Turner's syndrome: a condition marked by a chromosomal anomaly in phenotypic females with the chief pathognomonic symptoms of absence of ovaries (gonadal agenesis or dysgenesis) and short stature. The basic genetic defect is a missing sex chromosome, so that the total count is 45,X. There are several variants of this syndrome For example, the second X may, though present, be partially deleted. In one variant of the so-called mosaics, some cells of the body are 45,X and some 46,XX. Treatment includes giving female sex hormone at the age of puberty to induce adult appearance and menses. Girls with Turner's syndrome are almost invariably sterile.
Dictionary of Sexology Project: Main Index