The disease is relatively rare (1 case per
700-800 newborn girls). Often trisomy-X is detected
in patients with psychosis and oligophrenia.
Historical data. The disease was first described by Jacob in
1959 Etiology. The cause of the disease is unknown.
Pathogenesis. The disease is caused by the presence of women
three X chromosomes.
Clinic. The clinic is often poor in symptoms. In some cases
secondary amenorrhea, premature menopause may develop.
In most patients, the menstrual cycle is not broken. When
normal ovarian function are e ns and ns with trisomy-X capable
to childbirth. Trisomy X is not inherited. For
the disease is characterized by only a slight decrease in intelligence.
In some cases, the intellect is preserved. Often marked combination
of trisomy-X with schizophrenia, a tendency to develop epilepsy
these Motor activity is often reduced. Most
girls and women somatic abnormalities are absent. Sometimes
pathological and visual organs are observed: bilateral
I am atrophy of the optic nerve, chorioretinitis, unilateral
corneal clouding.
With chromosomal mosaicism 45X / 47XXX, the clinical picture of the disease is the same as with Shereshevsky-Turner syndrome.
In the study of polo
the presence of two or more chromatin
Taurus. In the study of the chromosomal complex is detected
karyotype 47xxx. In some cases there may be chromosomal mosaic
tsism of type 46XX / 47XXX; 47XXX / 48XXXX and 46XX / 47XXX /
/ 48XXXX.
Diagnosis. Diagnosis of the syndrome is often difficult. When
diagnosis is crucial research data
sexual chromatin and chromosomal complex.
Forecast. The prognosis for life is favorable. In some cases
such women have a reproductive function.
Treatment. With a lack of ovarian function prescribed
cyclic estrogen therapy in combination with drugs
progestin action (pregnin or progesterone).