Shereshevsky - Turner syndrome

Shereshevsky - Turner syndrome is a genetic condition that is manifested in the combination of defects of a number of organs and systems. The disease is associated with an abnormality of sex chromosomes: in patients detected only 45 chromosomes in normal 46, with chromosomal complex HO instead of the twentieth. Approximately 80%of patients with the syndrome Shereshevsky - Turner have a negative test for sex chromatin, i.e. cells do not have sex chromatin (see). Syndrome Shereshevsky - Turner observed in females, but patients are genetically male individuals (so-called pseudogenes); they have, as a rule, there are no secondary sexual characteristics. Often morphologically sex glands almost completely replaced by fibrous tissue. Syndrome Shereshevsky - Turner is a rare pathology.
In a typical syndrome Shereshevsky - Turner cases, particularly in the neonatal period, characterized pterygoid skin folds on the side of the neck of the patient or the "extra" skin on the neck, low border of hair growth on the forehead and neck, big nipples distance, deformation of the sternum and other bone abnormalities, sudden swelling of the dorsal surfaces of feet, sometimes with congenital heart disease in the form of coarctation of the aorta, or ventricular septal defect. On the radiograph find bone osteoporosis. Patients significantly lag behind in growth and 1/3 of the patients in mental development. Powerfully to note some specific anomalies of development: sticking undeveloped ear, reduced the lower jaw, the presence of the third century, polydactyly, syndactylia, congenital dislocations, loosening individual joints, flexion contractures fingers; there is deafness, strabismus, congenital ptosis, spontaneous nystagmus. In adulthood marked sexual infantilism, amenorrhea.
Syndrome Shereshevsky - Turner in the urine, there is a high level (from 200 to 500 ME) gonadotropin (hormones determine the development of sexual glands). The urinary excretion of 17-ketosteroids usually reduced.
Syndrome treatment Shereshevsky - Turner - symptomatic, appoints endocrinologist. Shown anabolic hormones: methylandrostendiol the rate of 1 mg per 1 kg of weight of a child, the treatment is carried out during the month, followed by a 2-week break; nerobolum (Dianabol) at a rate of 0.1 mg per 1 kg per day for children up to 2 years of life, from 2 to 5 years - at a dose of 0,002 g, from 5 to 14 years - 0,005 grams daily or every other day. Therapy is conducted in hypophyseal nanism (see). Treatment pterygoid skin folds in the neck online. With 13-14 years it is expedient to apply the female sex hormones: designate stilbestrol 1-2 mg a day levonorgestrel 0.1-0.2 mg / day. Treatment of sex hormones are conducted periodically during the next 5-10 years. in the period of puberty until the appearance of secondary sexual characteristics, then it is advisable to decrease the dose of stilbestrol to 0.5-1 mg a day.
Forecast in the vital relationship in the absence of additional defects favorable.
Cm. also Hereditary diseases.