Turner's Syndrome - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Congenital Anomalies

Syndrome Turner - a disease that occurs when abnormal development of sex chromosomes (instead inherent in the female body XX sex chromosomes, there is only one set of chromosomes obtained incomplete), resulting in impaired development of the genital glands in the early embryonic period.

Suffer syndrome women.The incidence of the syndrome one to three thousand girls were born.

Symptoms of Turner's syndrome

The child with the disease, instead of ovaries are formed bands of connective tissue, the uterus is underdeveloped.Very often the syndrome coupled with underdevelopment of other organs.Already at birth, the girl show the thickening of skin folds on the back of the head, the typical swelling of the hands and feet.Often the child is born small, with low birth weight.

for girls with Turner's syndrome at an early age is characterized by a typical appearance:

  • proportionally low growth (final height of patients does not exceed 150 cm.);
  • shortening of the lower jaw;
  • protruding low-set ears;
  • short necks with alar folds extending from the head to the shoulders (neck of the Sphinx), on which there is a low limit of hair growth;
  • broad chest with far-spaced inverted nipples;
  • often observed bending hands in elbows;
  • shortened 4th and 5th metacarpal bones, which makes short fingers;
  • protruding nails;

possible malformations of other organs and systems:

  • cardiovascular - heart disease;
  • urinary tract - hypoplasia of the kidneys, ureters, doubling, doubling and horseshoe kidney;
  • organ of vision - ptosis (drooping of the century), strabismus, the formation of the "third age".

Secondary sexual characteristics with Turner's syndrome are mild (and sometimes non-existent) and are manifested in the following:

  • underdevelopment of the breast;
  • abnormal development of large and small labia, uterus, vagina;
  • ovaries are not defined;
  • amenorrhea (absence of menstruation);
  • body hair on pubis and armpits are not expressed.

Diagnostics syndrome Shereshevskii-Ternenra

For diagnosis the patient undergoes a complete examination that includes:

  1. General blood and urine analysis.
  2. Daily urinary excretion of gonadotropins and estrogen.
  3. Determination of the blood levels of gonadotropins and estrogen new.
  4. Consultation gynecologist.
  5. Determination of sex chromatin and karyotype.
  6. ultrasound of the uterus and ovaries.
  7. X-ray examination of the skeletal system.

Women Turner syndrome results of the survey are as follows:

  • In the analysis of blood - decrease the amount of estrogen and increase of pituitary hormones (gonadotropins), especially follicle stimulating hormone.
  • increased daily urinary excretion of gonadotropins and estrogen decline.
  • If ultrasound does not find the ovaries, the uterus has an underdeveloped view.
  • When the X-ray inspection are osteoporosis (bone loss) and various anomalies of skeleton development.
  • often in people with this syndrome, will meet such diseases as diabetes, colon inflammation and gastrointestinal bleeding, goiter and tirioidity.
  • finally confirms the diagnosis of genetic research.

treatment of Turner's syndrome

Complete cure patients with Turner's syndrome is not possible.

used for the symptomatic treatment of growth hormone (human growth hormone), with which to reach a final increase patient rising 4-6 cm. After the age of 12-13 years is carried estrogen substitution therapy, because patients do not their ovaries capable of producing thehormone.Unfortunately, treatment does not prevent the development of osteoporosis and increased fracture risk.

vices of other organs and systems often require surgical treatment.

forecast of Turner's syndrome

With early detection and timely treatment can be done to increase growth.Prognosis for the full recovery unfavorable.Patients remain fruitless.

's syndrome Turner's possible death (death), which is primarily due to the birth defects vital organs.

considerable backlog of mental development in patients with the syndrome is not observed, they can successfully learn and perform any work that is not related to the physical and considerable mental stress.