Shereshevsky-Turner disease, often referred to as syndrome, is a chromosomal pathology due to complete or partial X-monosomy. Like any similar disease, it is very specific.
And now it is necessary to talk about what is the reason for its formation, what symptoms indicate the development of pathology, and also touch upon other aspects related to this topic.
Briefly about pathology
So, Shereshevsky-Turner disease is the primary dysgenesis of gonads, the cause of which is a violation of the sexual X chromosome. Almost all afflicted women are women. With this syndrome, according to statistics, 1 out of 3,000 babies are born. However, this population frequency cannot be called true, since spontaneous abortion often occurs in very early stages.
For the first time, this pathology was described in the literature a little less than 100 years ago - in 1925. It was studied by the Soviet endocrinologist N. A. Shereshevsky. He suggested that this disease occurs due to an underdeveloped anterior pituitary gland and gonads. Another scientist revealed a combination of pathology with congenital malformations related to internal development.
And in 1938, Henry Turner, an American endocrinologist, determined the triad of manifestations characteristic of this symptomatic complex. It included:
- Deformation of the elbow joints.
- Pterygoid skin folds localized on the lateral surfaces of the neck.
- Sexual infantilism.
The etiology of this disease was discovered by C. Ford in 1959.
Normally, in every human cell there are 23 pairs of chromosomes. These are carriers of genetic information. For men, 44 XY, and for women - 44 XX. With monosomy, a person does not have one chromosome in any pair. Thus, the genotype is written as 44 X0.
Causes
As already mentioned, the basis for the development of Shereshevsky-Turner disease is a quantitative or structural anomaly of the X chromosome. There are some nuances regarding this pathology.
You should know that in more than 60% of cases, complete monosomy is diagnosed. This is karyotype 45, X0. In about 20%, structural changes are observed. They appear in a deletion of a long or short shoulder. In the other 20%, so-called mosaicism is observed. Even by designation you can understand why this is so called: 45, X0 / 46, XY, 45, XX / 46, XX, etc.
It was noted that the vast majority of sick people are women. However, Shereshevsky-Turner disease can occur in men. This is usually due to chromosomal mosaicism or translocation.
It is important to make a reservation that the risk of developing this pathology is completely unrelated to the age of the woman carrying the fetus. The cause of any anomaly in the X chromosome (whether it is structural, qualitative or quantitative) is a violation of the meiotic discrepancy. It is this biological process that is fraught with aneuploidy or crushing of the zygote.
It should be noted that in almost all cases in people corresponding to the karyotype 45, X0, the loss of the paternal chromosome is observed.
If a woman is pregnant with a fetus with Shereshevsky-Turner syndrome, the causes of the occurrence are described above, then she is usually followed by severe toxicosis for a period of time. Preterm birth is possible, miscarriages often occur.
Disease options
Modern medicine knows only three possible scenarios of the development of the disease. Shereshevsky-Turner syndrome (photos of sick adults can be found on specialized resources) is found in the following options:
- The absence of a second sex chromosome. This form of the disease is the most common. The bottom line is that in the first trimester, the fetus develops ovaries absolutely normally. However, then, when a woman has a longer period, the structures of the future egg are replaced by connective tissue. This leads to the formation of defects in the internal organs. This form is characterized by pronounced symptoms, severe treatment, as well as many serious consequences.
- Mosaic type of development. This is the easiest kind of ailment. There are no severe malformations. You can find out about the presence of a syndrome in a person by a specific appearance, but there are much fewer signs pointing to it. This form lends itself well to therapy, and is rarely fraught with complications.
- A disease with structural changes in the sex chromosomes. It is very rarely detected in women with a normal karyotype. Almost everything is in order, but one chromosome is damaged, and seriously. This leads to the presence of many signs characteristic of the first form. But they are still less.
For some, this will be surprising, but in the vast majority of cases, children with this disease are born in completely healthy people. During pregnancy, they can only learn about the development of the fetus Shereshevsky-Turner syndrome with the help of a karyotype analysis.
What is it and how is this study carried out? For its conduct, venous blood is taken, which is then subjected to special types of treatments. As a result, chromosomal cells are stained. Their experts and study under a microscope. In the context of modern medicine, it is possible to identify a set of chromosomes characteristic of Shereshevsky-Turner disease.
Birth
Children who develop Shereshevsky-Turner syndrome, the causes of which are listed above, are often born prematurely. However, even if a woman left all 9 months, her born child has a growth and weight indicators. Weight can reach as little as 2500-2800 grams. And in length, as a rule, such babies are no more than 42-48 cm.
At birth, the first symptoms may appear. They are few, but all specific:
- Identification of congenital heart disease.
- Swelling of the hands and feet.
- Like a shortened neck with ptergium syndrome (leather folds on the sides).
Newborn children with the karyotype caused by Shereshevsky-Turner syndrome also suffer from a violation of the sucking reflex, lag in physical development, otitis media (very often recurring, can lead to conductive hearing loss), as well as a delay in the formation of speech.
Puberty
By the time puberty begins, the growth of children with a karyotype due to Shereshevsky-Turner syndrome is approximately 130-145 cm. In addition, the following features are observed:
- Short neck with pterygoid folds on it.
- "The face of the sphinx." It looks like myasthenic. It is characterized by protruding lips, drooping eyelids and general muscle relaxation. The person is inactive, facial expressions are almost absent.
- Low hairline.
- Deformation of the auricles.
- Micrognathia.
- Wide chest.
- Abnormal bite.
- High gothic sky.
By looking at what patients with Shereshevsky-Turner disease look like (see photo at the beginning of the article), you can see how they differ from ordinary people. In addition to external manifestations, there are many other distinctive features. Among them:
- Hip dysplasia.
- Scoliosis.
- Deviation of the elbow joints.
Even these people develop osteoporosis early. This is all due to estrogen deficiency. Therefore, patients often suffer from fractures of the spine, femoral neck, and wrists.
Organism differences
As already understood, this is a very specific chromosomal disease. Shereshevsky-Turner syndrome also manifests itself in many other problems If we talk about cardiovascular ailments, for example, then the most common ones are:
- Ventricular septal defect.
- Aneurysm or coarctation of the aorta.
- Open ductus arteriosus.
If we talk about the urinary system, then such conditions are noted here:
- Horseshoe kidney.
- Renal artery stenosis.
- Doubling of the pelvis.
These problems often lead to hypertension.
Even people with Shereshevsky-Turner chromosomal disease often have impaired development of the visual system. They are manifested by color blindness, strabismus, myopia and ptosis.
Other ailments include:
- Diabetes.
- Hypothyroidism
- Vitiligo.
- Ischemic heart disease.
- Obesity.
- Pigmentary nevi.
- Celiac disease.
- Alopecia.
- Hashimoto's thyroiditis.
What is important, with this disease, intelligence is preserved. In very rare cases, oligophrenia occurs. But the risk of developing colon cancer in people with this syndrome is very high.
Specific sexual characteristics
So, earlier it was said what it is - Shereshevsky-Turner syndrome. Photos of patients suffering from it are presented above, but there are still some features that need to be considered.
The fact is that in almost 100% of patients the so-called sexual infantilism, also called primary hypogonadism, is detected. One of the following signs (or several) may indicate it:
- Instead of the ovaries, there are 2-sided fibrous cords in which there are no follicles.
- Hypoplasia of the uterus.
- Rudimentary ovaries with separate follicles.
- Large labia, sometimes even resembling a scrotum.
- Underdevelopment of the hymen, labia minora, and clitoris.
- Primary amenorrhea.
- Underdeveloped mammary glands.
- Inverted nipples without pigmentation.
- Very poor hairiness of the pubis and armpits.
Usually women with Shereshevsky-Turner syndrome (photos of patients and symptoms are presented above) are infertile. However, if the mosaic variant is diagnosed, conception further bearing is possible.
What changes are observed in men? Typically, testicular hypoplasia, anarchy, 2-sided cryptorchidism, and low testosterone levels.
Diagnostics
In newborns, this disease is difficult to detect. Typically, a pediatrician or a neonatologist suspects when examining a baby. An alarming sign is lymphedema and the notorious pterygoid fold of the neck.
If there are no such signs, then it will be difficult to determine the disease. It will begin to manifest itself closer to the puberty. The child will have an abnormally low growth, poor severity of secondary sexual characteristics, as well as the absence of menarche in girls (first menstrual bleeding).
A study of the level of hormones is prescribed. According to its results, it is possible to detect a decrease in blood levels of estrogen, as well as an increased amount of gonadotropins. But the decisive study is aimed at determining chromatin. A notorious karyotype test is also performed.
If it is possible to detect signs of the disease during obstetric ultrasound, then a decision is made regarding the appointment of an invasive prenatal diagnosis.
People with this syndrome will have to undergo consultations and examinations of many specialists. Among them:
- Heart surgeon
- Geneticist.
- Cardiologist.
- Otolaryngologist.
- Nephrologist.
- Endocrinologist.
- Lymphologist.
- Ophthalmologist.
- Gynecologist for women, andrologist for men.
To identify the presence or absence of concomitant diseases and other pathologies in a person, the passage of such studies and procedures is prescribed:
- MRI of the heart.
- Echocardiography.
- Ultrasound of the kidneys.
- ECG.
- X-ray of the spine.
- Densitometry.
- Gynecological examination for women. An ultrasound of the pelvic organs is also indicated.
- X-ray of hands, feet, bones.
- Ultrasound scrotum. This is followed by a study of androgenic profile.
In addition to the above, they also conduct differential diagnostics. It is important to distinguish the syndrome from other diseases with similar symptoms. The disease is similar to pituitary dwarfism. And therefore, the patient is also prescribed a study of the level of pituitary hormones. Electroencephalography and a procedure such as an x-ray of the Turkish saddle are often indicated.
Treatment
Is it possible? Yes, and therapy is aimed at stimulating growth, enhancing the development of secondary sexual characteristics, as well as normalizing the menstrual cycle.
At a young age, no specific events are carried out. Girls are shown physiotherapy exercises, high-quality massage, good nutrition, as well as vitamins. Of course, parents should make sure that the medical and protective regimen is respected. Children with this ailment require constant attention and care.
Final growth can be increased by daily subcutaneous injections of growth hormone. When the girl’s bone age reaches 15 years, the injections stop. This therapy helps to achieve growth of 150-155 cm. As a rule, doctors also prescribe anabolic steroids. By taking them at the same time, you can achieve a good result.
Imitation of full puberty is also required. Therefore, from 13-14 years old girls are shown replacement therapy with estrogen. After about one and a half years, cyclic therapy is prescribed, which implies taking oral contraception with an estrogen-progestagen composition.
Hormone replacement therapy lasts until about 50 years. At this time, healthy women usually have menopause.
If the disease is diagnosed in a man, then he is prescribed the same therapy, only with the use of other sex hormones.
In cases where patients have congenital heart disease, surgical correction is necessary. Pterygoid skin folds are also often removed. Modern plastic surgery allows you to do this.
In the event that a woman has managed to achieve a normal level of sexual development, she can even become pregnant. True, with the help of IVF, using a donor egg. If ovarian short-term activity is diagnosed, own oocytes can be used for fertilization.
Forecast
The pathology in question does not affect how much the patient will live. The disease itself does not affect the duration in any way, but its consequences, which include decompensation of other pathologies, early development and severe CHD, can.
However, with adequate therapy, people suffering from this ailment can create families and even lead a full sexual life. However, as practice shows, most remain barren. Either they do not risk putting their potential child in danger also to suffer from this syndrome.
Be that as it may, the patient should regularly undergo examinations or attend consultations of an endocrinologist, geneticist, andrologist or gynecologist (depending on gender), ophthalmologist, cardiologist and other specialists.
Down syndrome and Shereshevsky-Turner disease
These are completely different pathologies. But some believe that they have a common origin. This is not true.
Down syndrome is characterized by the presence in humans of an additional copy of the chromosome. And a certain pair is the 21st.
And this pathology is much more common. One case is recorded for approximately 500-800 infants. Both boys and girls are affected. And medicine, this disease became known much earlier - the first descriptions date back to 1866.
By the way, one of the key differences between ailments is that with Down syndrome, most children have impaired intellectual development. But in patients with Shereshevsky-Turner pathology this is rarely observed. In addition, there are dozens of differences.