|
Turner's syndrome Causes and Risks:
Turner's syndrome is caused by a missing X chromosome. It affects 1 out of 3,000 live births. There are many manifestations of this syndrome, but the main features are short stature , webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics, absence of menstruation, coarctation (narrowing) of the aorta, and abnormalities of the eyes and bones. The condition is either diagnosed at birth because of the associated anomalies, or at puberty when there is absence of menses and delayed development of normal secondary sexual characteristics.
Prevention:
There is no known prevention for this inherited disorder.
Symptoms:
Signs and Tests:
A physical examination reveals underdeveloped genitalia, webbed neck, short stature , and abnormal development of the arms.
This disease may also alter the results of the following tests:
Treatment:
Treatment is supportive. Growth hormone replacement may or may not be prescribed; it may help the child to achieve a more "normal" height.
Estrogen therapy is started at 12 or 13 years old to stimulate the development of secondary sexual characteristics so that girls affected with this disorder will have a more normal appearance as an adult. Estrogen therapy, however, will not reverse infertility .
Cardiac surgery is sometimes necessary to correct heart defects.
Prognosis:
This chromosome abnormality is associated with numerous medical conditions and problems in addition to the lack of sexual maturity.
Complications:
Call Your Healthcare Provider:
Call for an appointment with your health care provider if your infant appears to have symptoms of this disorder; or if an adolescent girl's development seems to be delayed.
Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some syndromes include pectus excavatum.
|
