|This condition is a disorder of sexual development of women. It arises due to defective sexual differentiation at the time of fertilization. Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.
Humans have 46 chromosomes. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).
In Turner syndrome, cells are missing all or part of an X chromosome. The condition only occurs in females. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
|The incidence is estimated at 1 in 3000 newborn females.
Main features in this condition are absence of menstruation (Primary amenorrhea), incomplete development of sexual characters (sexual infantilism), short stature, multiple congenital abnormalities in women. After the time of expected puberty pubic and axillary hair remain sparse, the breasts are infantile, and no menses occur. In a small percentage of cases some menstruation may occur. Indeed, occasionally minimally affected women become pregnant; the reproductive life in such individuals is brief.
People with TS are all different. Some may have many physical abnormalities and symptoms, whereas others experience only a few medical problems. With early and appropriate medical care and ongoing support, many with TS can lead normal, healthy, and productive lives.
|The diagnosis is made either at birth because of the associated anomalies or at puberty when amenorrhea and failure of sexual development are noted.The external genitalia are of female type but remain immature and do not grow as in adult females. There is no breast development. Internally the fallopian tubes and uterus are also immature. On the both sides the ovaries are grossly underdeveloped.Skeleton and the connective tissue are also involved. Swelling of the hands and feet, webbing of the neck, low hairline, skin folds on the back of the neck, a shield like chest with widely spaced nipples, and growth retardation. These features suggest the diagnosis in infancy. Ears may be deformed. A fishlike mouth, Eyes may show ptosis – drooping of the upper eye lids.
|Other associated conditions which may be present in such patients are : Coarctation of Aorta, Renal malformations, tendency to keloid formation, hearing impairment, unexplained hypertension, tendency to diabetes, thyroid disease.|
|Treatment : At the anticipated time of puberty, replacement therapy with estrogen should be started. This helps in the maturation of the breasts, labia, vagina, uterus, and fallopian tubes. Linear growth and bone maturation rates are also improved by this treatment. But the eventual height rarely approaches the predicted level. Combination therapy with oxandrolone and/or growth hormone accelerates growth and increases final height.|