Shereshevsky-Turner's syndrome
Contents:
Description:
Shereshevsky-Turner's syndrome (45, X) - the only form of a monosomy at live-born.
Symptoms of the Syndrome of Sherishevsky-Turner:
Clinically Shereshevsky-Turner's syndrome is shown in three "directions":
1. hypogonadism, underdevelopment of generative organs and secondary sexual characteristics;
2. inborn malformations;
3. low growth.
From a reproductive system lack of gonads (an agenesia of gonads), a hypoplasia of a uterus and uterine tubes, primary amenorrhea, scanty pilosis of a pubis and axillary hollows, an underdevelopment of mammary glands, insufficiency of estrogen, surplus of pituitary gonadotrophins are noted. Different inborn heart diseases and kidneys occur at children with Shereshevsky-Turner's syndrome often (to 25% of cases).
Outward of patients is rather peculiar (though not always). At newborns and children of chest age characteristic symptoms are noted: the short neck is a lot of skin and alate folds, lymphatic swelled feet, shins, hands and forearms. In school and especially at teenage age lag in growth, in development of secondary sexual characteristics comes to light. Disturbances of a skeleton, craniofacial dizmorfiya, valgus deviation of knee and elbow joints, shortening of metacarpal and metatarsal bones, osteoporosis, a barrel-shaped thorax, low growth of hair on a neck, antimongoloidny a section of palpebral fissures, a ptosis, an epikant, the retrogenius, a low arrangement of auricles are characteristic of adults. Growth of adult patients is 20-30 cm lower than an average.
Reasons of the Syndrome of Sherishevsky-Turner:
Frequency of a syndrome of Shereshevsky-Turner among newborn girls is equal to 1:2000-1:5000. The cytogenetics of a syndrome is diverse. Along with a true monosomy in all cells (45, X) other forms of chromosomal anomalies on gonosomes meet. These are deletions of a short or long shoulder of X-chromosome |46, X, Hr-; 46,X, Xq-], isochromosomes [46,X, i(Xq); 46,X, i(Xp)], closed chromosomes |46, X,R(X)], and also various options of mosaicism. Only 50% of patients with Shereshevsky-Turner's syndrome (50-69% of total number) have a simple full monosomy (45, X). Other cases - various mosaicism (in general 30-40%) and more rare options of deletions, nzokhromosy, closed chromosomes. It is interesting to note that mosaicism 45,X/46,XY (2-5% of total number of patients with Shereshevsky-Turner's syndrome) is characterized by the broad range of clinical signs (from a typical syndrome of Shereshevsky-Turner to a normal men's phenotype) depending on a ratio of cellular clones.
Treatment of the Syndrome of Sherishevsky-Turner:
Treatment of patients with Shereshevsky-Turner's syndrome complex:
1. reconstructive surgery (inborn defects of internals);
2. plastic surgery (removal of alate folds, etc.);
3. hormonal (estrogen, growth hormone);
4. psychotherapeutic.
