Presentation on the topic "Shereshevsky-Turner syndrome". Presentation on the topic "Shereshevsky-Turner Syndrome" Diploma for active participation in the work on improving the quality of education together with the "Infourok" project

    slide 2

    This is a violation of the development of the sex glands, caused by an anomaly of the sex chromosomes. The development of the gonads is already disturbed in early period embryo development. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.

    slide 3

    A child with Shereshevsky-Turner syndrome has a primary underdevelopment of the genital organs. Instead of the ovaries, strands are formed from connective tissue the uterus is underdeveloped. This syndrome can be combined with underdevelopment of other organs. Already at birth, the girls show a thickening of the skin folds on the back of the head, a typical swelling of the hands and feet. Often a child is born small, with low body weight.

    Appearance child

    growth is small

    curvature of the hands

    areas elbow joints

    protruding ears

    small bottom

    jaw short neck with wing -

    prominent folds

    slide 4

    Clinical symptoms of Shereshevsky-Turner.

  • slide 5

    Treatment of the sick

  • slide 6

    Diagnostics

  • Slide 7

    For people with Shereshevsky-Turner syndrome, the results of the examination will be as follows: in a blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin. Increased daily excretion of gonadotropins in the urine and a decrease in estrogens.

    At ultrasound examination do not find the ovaries, the uterus has an underdeveloped appearance.

    X-ray examination reveals osteoporosis bone tissue) and various anomalies in the development of the bone skeleton.

    Often, people suffering from this syndrome will have diseases such as diabetes, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis.

    A genetic study confirms the diagnosis.

    Slide 8

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Syndrome
Shereshevsky Turner
Completed by: 4th year student,
LF, groups 1209 Karimova E.A.
Checked by: Zakharova N.S.

Shereshevsky-Turner syndrome

chromosomal disease,
accompanied by characteristic
anomalies of the physical
development, short stature and
sexual infantilism.

Frequency of occurrence

Frequency of occurrence
Shereshevsky Turner syndrome among women is 1:
3000, and with the growth of adults
women 130-145 cm this frequency
rises to 1:14.
Monosomy of the short arm x
chromosomes, karyotype 45 XO

HISTORY.

For the first time this disease as hereditary was described in
1925 by N. A. Shereshevsky, who believed that she
due to underdevelopment of the gonads and anterior lobe
pituitary gland and is combined with congenital malformations
internal development. In 1938, Turner singled out
triad characteristic of this symptom complex
symptoms: sexual infantilism, skin pterygoid
folds on the lateral surfaces of the neck and deformation
elbow joints. In Russia, this syndrome is called
Shereshevsky-Turner syndrome. Etiology
disease (monosomy on the X chromosome) was discovered by Ch.
Ford in 1959

Pathogenesis

The disease is based on an anomaly
sex chromosomes, which in turn
leads to congenital anomaly
sexual differentiation, and often
and to various somatic
anomalies. Instead of the inherent
female body XX-genital
Chromosomes are usually present only
one X chromosome. It happens
due to the loss of the second sexual
chromosomes during meiosis. Due
with this arises an incomplete
chromosome set (45X karyotype).
However, this disease can
to be various options mosaicism:
45X/46XX, 45X/46XY, 45X/47XXX and
others

Basic information…

A clear relationship between the occurrence of Turner syndrome with age and any diseases of the parents has not been identified.
However, pregnancies are usually complicated by toxicosis, the threat of miscarriage, and childbirth is often premature and
pathological. Features of pregnancies and childbirth ending in the birth of a child with Turner syndrome -
consequence of a chromosomal pathology of the fetus. Violation of the formation of the gonads in Turner's syndrome
due to the absence or structural defects of one sex chromosome (X chromosome).
In the embryo, primary germ cells are laid down in almost normal quantities, but in the second half
pregnancy, their rapid involution (reverse development) occurs, and by the time the child is born, the number
follicles in the ovary are sharply reduced compared to the norm or they are completely absent. This leads to
severe insufficiency of female sex hormones, sexual underdevelopment, in most patients - to
primary amenorrhea (lack of menstruation) and infertility. Emerged chromosomal abnormalities are the reason
occurrence of malformations. It is also possible that concomitant autosomal mutations play a role.
in the appearance of malformations, since there are conditions similar to Turner's syndrome, but without visible
chromosomal pathology and sexual underdevelopment.
In Turner syndrome, the gonads are usually undifferentiated connective tissue
strands that do not contain elements of the gonads. Less common are the rudiments of the ovaries and elements of the testicles, as well as the rudiments
vas deferens. Other pathological data correspond to the features of clinical manifestations.
The most important changes in the osteoarticular system are shortening of the metacarpal and metatarsal bones, aplasia (absence)
phalanges of the fingers, deformity of the wrist joint, osteoporosis of the vertebrae. X-ray for Turner's syndrome
the Turkish saddle and bones of the cranial vault are usually not changed. Heart defects and large vessels(coarctation
aorta, cleft of the ductus arteriosus, cleft interventricular septum, narrowing of the mouth of the aorta), defects
kidney development. Recessive genes for color blindness and other diseases appear.

Clinic There are 3 groups of deviations

hypogonadism (sexual infantilism) is detected in puberty,
amenorrhea in 96%, infertility - more than 96-99%.
congenital somatic malformations:
- anomalies of the urinary system (horseshoe kidney, doubling of the kidneys and
urinary tract) - 43-60%
- mental retardation - 18-50%
- anomalies of cardio-vascular system(VPR - coarctation) - 43%
- hearing loss - 40-53%
- visual impairment - 22%
low growth, while: short torso - 97%, short neck - 71%,
pterygoid fold on the neck (pterygium) - 53%, low hair growth on
the back of the head - 73%.

Physical development.

Backlog of patients with Turner's syndrome in physical development
noticeable from birth. Approximately 15% of patients have a delay
seen during puberty. For full-term
newborns are characterized by small length (42-48 cm) and body weight
(2500-2800 g or less). Characteristic features Turner syndrome
at birth are excess skin on the neck and other defects
development, especially of the musculoskeletal and cardiovascular systems,
"face of the sphinx", lymphostasis (stagnation of lymph, clinically
manifested by large edema). Characteristic for a newborn
general restlessness, impaired sucking reflex, regurgitation
fountain, vomiting. AT early age some patients note
mental retardation and speech development, which indicates
developmental pathology nervous system. most characteristic
short stature is a sign. The growth of patients does not exceed 135-
145 cm, body weight is often excessive.

Sexual development.

Sexual underdevelopment in Turner syndrome is different
a certain idiosyncrasy. Common signs are
geroderma (pathological atrophy of the skin, resembling senile)
and scrotum-like appearance of the labia majora, high perineum,
underdevelopment of the labia minora, hymen and clitoris,
funnel-shaped entrance to the vagina. Mammary glands in most
patients are not developed, nipples are low located. Secondary hair growth
appears spontaneously and is scarce. The uterus is underdeveloped. Sexual
glands are not developed and are usually represented by connective tissue.
In Turner's syndrome, there is a tendency to increase
blood pressure in young people and to obesity with
tissue malnutrition.

Intelligence.

Intelligence in most patients with Turner syndrome is practically
preserved, but the frequency of oligophrenia is still higher. In the mental
status of patients with Turner syndrome plays a major role
peculiar mental infantilism with euphoria with good
practical adaptability and social adaptation.
The diagnosis of Turner syndrome is based on characteristic clinical
features, determination of sex chromatin (substance of cellular
nucleus) and the study of the karyotype (chromosome set).
The differential diagnosis is carried out with dwarfism (dwarfism),
to exclude which the definition of content is carried out
pituitary hormones in the blood, especially gonadotropins.

Sex glands are not developed and
usually presented
connective tissue that
leads to infertility
Backlog and defects
physical development:
growth is small
petite lower jaw
protruding ears
wide rib cage from far away
parted nipples
nipples are inverted
often curvature of the hands in the area
elbow joints
convex nails on short
fingers.

Diagnostic methods

determination of sex chromatin
(substances of the cell nucleus) -
its absence is observed.
karyotype study
(chromosomal set) - 45X0;
45X0/46XX; 45,X/46,XY; 46.X iso
(Xq)
Decreased amount in the blood
estrogen, but increased
pituitary hormones, especially
follitropin
On ultrasound
no ovaries found, uterus
underdeveloped
During x-ray examination
find osteoporosis (a rarefaction
bone tissue) and various
anomalies in the development of the bone skeleton

Treatment

At the first stage, therapy consists in stimulating the growth of the body with anabolic
steroids and other anabolic drugs. Treatment should be
minimal effective doses of anabolic steroids intermittently
regular gynecological control. The main type of therapy for patients is
estrogenization (appointment of female sex hormones), which should be carried out with
14-16 years old. Treatment leads to the feminization of the physique, the development of female
secondary sexual characteristics, improves trophism (nutrition) of the genital tract, reduces
increased activity of the hypothalamic-pituitary system. Treatment should be
throughout the childbearing age of patients.
If using hormone therapy able to grow to normal size
uterus, then pregnancy in such patients is possible with the help of IVF with donor
egg. Cases where their eggs have been preserved are rare.
AT recent times to increase the final growth rates, therapy is carried out
somatotropin.

The main stages of treatment.

Growth hormone (somatotropin)
person)
After reaching the age of 12-13 years, begin
estrogen replacement therapy
Defects of other organs and systems, especially
cardiovascular often require
surgical treatment
Psychotherapy

Prenatal diagnosis

Ultrasound - the presence of defects
development
Chorionic biopsy
9-11
week - chromosomal
analysis
Amniocentesis
15-17
week - chromosomal
analysis
Cordocentesis
18-22
week - chromosomal
analysis

Forecast

Forecast for life at
Turner syndrome
favorable, exception
are patients with
severe congenital
heart defects and major
vessels and kidney
hypertension. Treatment
female genital
hormones makes sick
capable of family
life, but absolute
most of them remain
barren.

Shereshevsky-Turner syndrome

Prepared

Physical education teacher

Musienko Anna Vadimovna


Shereshevsky-Turner syndrome

This is a violation of the development of the sex glands caused by an anomaly of the sex chromosomes. The development of the gonads is disturbed already in the early period of the development of the embryo. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.



  • growth is small;
  • protruding ears;
  • small lower jaw;
  • curvature of the arms in the area of ​​the elbow joints;
  • short neck with pterygoid folds.

Clinical symptoms Shereevsky-Turner.

Symptom:

Frequency, % of the total

small stature

sick

congenital lymphedema

Pterygoid folds

Low hair growth on the neck

Flattened chest

short neck

Valgus curvature

Changing the nails on the feet and hands

high palate


  • Reconstructive surgery ( birth defects internal organs);
  • Plastic surgery (removal of pterygoid folds, etc.);
  • Hormonal drugs (estrogen, growth hormone);
  • Psychotherapeutic.

  • General analysis blood;
  • daily urinary excretion of estrogens and gonadotropins;
  • Ultrasound of the uterus and ovaries;
  • determination of sex chromatin and karyotype;
  • consultation with a gynecologist

  • In the blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin.
  • Increased daily excretion of gonadotropins in the urine and a decrease in estrogens.
  • Ultrasound examination does not find the ovaries, the uterus has an underdeveloped appearance.
  • An x-ray examination reveals osteoporosis (rarefaction of bone tissue) and various anomalies in the development of the bone skeleton.
  • Often, people suffering from this syndrome will have diseases such as diabetes mellitus, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis.
  • A genetic study confirms the diagnosis.

slide 2

Shereshevsky-Turner syndrome is a violation of the development of the sex glands caused by an anomaly of the sex chromosomes. The development of the gonads is disturbed already in the early period of the development of the embryo. This syndrome occurs with a frequency of one in three thousand born girls. During the division of the germ cells of the parents, the divergence of the sex chromosomes is disrupted, as a result of which, instead of the normal number of X chromosomes (and normally a woman has two), the embryo receives only one X chromosome. The set of chromosomes is incomplete.

slide 3

A child with Shereshevsky-Turner syndrome has a primary underdevelopment of the genital organs. Instead of the ovaries, strands of connective tissue are formed, the uterus is underdeveloped. This syndrome can be combined with underdevelopment of other organs. Already at birth, the girls show a thickening of the skin folds on the back of the head, a typical swelling of the hands and feet. Often a child is born small, with low body weight. Appearance of the child growth small curvature of the arms in the elbow joints protruding ears small lower jaw short neck with a wing - visible folds

slide 4

Clinical symptoms of Shereevsky-Turner. Symptom: Frequency, % of the total number of patients Small stature 100% Congenital lymphedema 65% Pterygoid folds 65% Low hair growth on the neck 75% Flattened chest 55% Short neck 50% Valgus deformity 45% Change in nails on the feet and hands 75% High palate 70%

slide 5

Treatment of patients Reconstructive psychotherapeutic surgery (congenital malformations Plastic hormonal pre- internal surgery(removal of paraty (estrogens, organs) pterygoid folds of growth hormone), etc.)

slide 6

Diagnosis Complete blood count Ultrasound of the uterus and ovaries daily excretion with the determination of sexual urine of estrogen and chromatin and karyotype of gonadotropins consultation with a gynecologist

Slide 7

For people with Shereshevsky-Turner syndrome, the results of the examination will be as follows: in a blood test - a decrease in the amount of estrogens and an increase in pituitary hormones (gonadotropins), especially follitropin. Increased daily excretion of gonadotropins in the urine and a decrease in estrogens. Ultrasound examination does not find the ovaries, the uterus has an underdeveloped appearance. An x-ray examination reveals osteoporosis (rarefaction of bone tissue) and various anomalies in the development of the bone skeleton. Often, people suffering from this syndrome will have diseases such as diabetes mellitus, inflammation of the large intestine and gastrointestinal bleeding, goiter and thyroiditis. A genetic study confirms the diagnosis.