Turner Syndrome
This condition is a disorder of sexual
development of women. It arises due to defective sexual
differentiation at the time of fertilization.
Main features in this condition are
abscence of menstruration (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 menstruration may occur. Indeed,
occasionally minimally affected women become pregnant;
the reproductive life in such individuals is brief.
The incidence is estimated at 1 in 3000
newborn females.
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 impairmaent, 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.
 
|
