Turner syndrome – causes, diagnosis, symptoms and treatment [EXPLAINED]

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Turner syndrome is an inherited genetic disorder that only affects girls. It is based on the complete or partial absence of the X sex chromosome in all or only some of the cells of the body. What are the symptoms of Turner syndrome and how is it treated?

Turner syndrome – basic information

Turner syndrome, or Turner’s syndrome to genetic syndrome of birth defects found in girls. Genetic defects are caused by the complete or partial absence of one of the X chromosomes in all or part of the body’s cells. Healthy girls have one X chromosome from their mother and a second X chromosome from their father.

The lack of one chromosome is the result of an abnormal division in the formation of sperm and eggs. Even if the second X chromosome turns out to be present in the cells, it is defective in Turner syndrome. A genetic error, therefore, arises when the reproductive cells appear.

If you want to know more about genetic diseases read on: The most common genetic diseases. How are they made?

History and first diagnosed cases of Turner syndrome

Turner syndrome is also known by other names. In medical language, the following terms are also used to describe this disease entity: Ullrich’s syndrome, Ullrich-Turner syndrome, Szereszewski-Turner syndrome, residual ovary syndrome, Morgagni-Turner-Albright syndrome, Turner-Albright syndrome or Morgagni-Szereszewski-Turner syndrome -Albright.

The genetic defect syndrome was first introduced and described in 1938 by the American endocrinologist Henry Hubert Turner from Oklahoma. The name of this disease also comes from his surname. In the work that pioneered the study of genetic defect syndrome, Turner described cases of seven of his young female patients who exhibited the typical features of the disease, such as short stature, bone age retardation and hypogonadism. It is worth mentioning that Turner initially mistakenly identified these features with the malfunctioning of the anterior pituitary gland.

However, the explanation of the genetic basis of Turner syndrome is attributed to Charles Ford and the specialists working with him, who in 1959 described the absence of the X chromosome in a 14-year-old girl.

1. Turner syndrome is a genetic disease that affects the female sex. If you want to learn more about genetic diseases that are specific to the male sex, read: Seven genetic diseases that mainly affect men

The causes of Turner syndrome

As it turns out, Turner syndrome is one of the most common genetic sexual diseases in the world. The prevalence of the syndrome is estimated at 1 in 2 newborn girls. It is likely to be much more common, but is the cause of a large number of miscarriages and stillbirths.

The etiology of Turner syndrome It is associated with one of the sex chromosomes, the X chromosome. In a healthy person, there are two sex chromosomes in the cells, in women – 2 X (XX) chromosomes, in men – one X and one Y (XY) chromosome. In Turner syndrome, there is only one normal X chromosome (X0) in the cells of a woman’s body. The second is absent or damaged.

Apart from having only one X chromosome, Turner syndrome can also result from changes in the structure of one of the chromosomes. The following aberrations are listed as contributing to the occurrence of Turner syndrome:

1. partial or complete loss of one or more nucleotide pairs of the short arm of the X chromosome;
2. complete loss of one or more nucleotide pairs of the long arm of the X chromosome;
3. defective chromosomes usually arise from 2 identical arms – 2 short or 2 long chromosomes;
4. ring chromosome (circular, ring-chromosome;
5. marker chromosome;
6. mosaicism, which means the presence of more than two cell lines in one person.

Chromosome abnormalities affect a child’s development both before and after birth.

During this particular period, pregnant women should think about their health and that of their unborn child. A medical package designed for pregnant women can give a great sense of security.

Do you want to know more about the karyotype? Read: Human karyotype

Symptoms of Turner syndrome

The most characteristic symptoms of Turner syndrome are short stature and lack of sexual maturation in girls. Turner syndrome combines both external and internal symptoms, which usually lead to further diseases. The symptoms of Turner syndrome can be divided into:

1. external symptoms – Some patients diagnosed with Turner syndrome may have characteristic features known as dysmorphic. An additional skin fold in the nape area – the so-called neck finness – occurs in approx. 30% of girls. The chest is buckled and the bones are lopsided. The face is dysmorphic – antimongoid arrangement of the eyelid slits, diagonal wrinkle, large protruding ears. There are also wide set eyes and a skin fold that covers the inner corners of the eye. Moreover, many patients have multiple pigmented lesions;
2. short stature – One of the most characteristic features of Turner syndrome is short stature. A slowdown in the growth rate can already be noticed around 18 months of age. The end of the growing period is delayed, it occurs around 20-21. age. Patients with Turner syndrome average height of 143 cm. The body proportions are disturbed: stocky build, short neck and short legs in relation to the body.
3. improper shape of the reproductive organs – due to the disturbance of the formation of the ovaries in the fetal period and the eggs developing in them, the so-called vestigial gonads (called gonadal dysgenesis, leading in most cases to infertility). The fallopian tubes and ovaries often have the form of connective tissue bands and therefore cannot fulfill their physiological function – primary amenorrhea is observed. It is also manifested by the lack of development of the mammary glands or the absence of pubic hair. In most girls, puberty does not start spontaneously, hormone therapy is required – administration of estrogens;
4. cardiovascular defects – heart defects and cardiovascular diseases are another important symptom of Turner syndrome. Common aorta include coarctation of the aorta, dilatation of the ascending aorta and the urinary tract. Lymphoedema of the feet and hands appears in the neonatal period. Moreover, arterial hypertension in patients diagnosed with Turner syndrome is much more common than in the healthy part of society;
5. endocrine disorders – thyroid disease or diabetes are common in patients with Turner syndrome. They are often diagnosed with hypothyroidism, as well as insulin resistance leading to type II diabetes.
6. autoimmune disorders – Turner syndrome is associated with a higher risk of celiac disease, enteritis, and Hashimoto’s disease;
7. eye disorders – patients with Turner syndrome are often diagnosed with amblyopia, strabismus, ptosis, cataracts, glaucoma or retinal detachment.
8. hearing disorders – patients with Turner syndrome are more likely to develop otitis media and experience rapid deterioration of hearing leading to hearing loss.

So far, no factors increasing the risk of this syndrome have been identified. The hypothesis of the relationship between the mother’s age or the presence of paternal alcoholism and the risk of Turner syndrome in the child has not been confirmed.

Diagnosing Turner Syndrome

The decision to start the diagnosis of Turner syndrome depends on the symptoms of the disease that are present at a certain age of the patient. At different ages, there may be different symptoms of this disease. Accordingly, the diagnosis of Turner syndrome may be based on:

1. diagnosis in the prenatal period – the basis for the diagnosis of Turner syndrome may be fetal edema and increased translucency of the nuchal fold;
2. diagnosis in the neonatal period – pillow-shaped swelling of the feet and hands is observed in about 30-40% of newborns with Turner syndrome. Additionally, there may be swelling of the subcutaneous tissue around the neck and nape;
3. diagnosis during childhood – mostly low growth in girls is assessed. Growth is assessed on the basis of a percentile grid. The more the child’s height differs from the height of the parents or siblings, the earlier the proper diagnosis of Turner syndrome begins;
4. diagnosis in adolescence – girls of this age lack sexual maturation, including the absence of pubic hair or the absence of menstruation. There are cases, however, that only problems with getting pregnant become the basis for the diagnosis of Turner syndrome in a patient. 

A proper diagnosis can only be made after genetic testing has been carried out. During the examination, the patient’s blood is taken to determine the karyotype. The karyotype is the record of all the chromosomes. The analysis of the collected material is performed by a cytogeneticist who observes, counts and pairs the corresponding chromosomes. The patient’s result is usually a record with a drawing of black and white striped chromosomes linked in pairs. The test result is discussed with the geneticist.

If diagnosis of Turner syndrome is carried out in the prenatal period, invasive prenatal examination is performed, i.e. amniocentesis or chorionic villus sampling. However, it is worth remembering that performing this test is associated with the risk of miscarriage, which is estimated at about 0,5-1%.

What should you know about genetic testing? Check: Genetic research: benefits, course, costs

Proceedings after diagnosis of Turner syndrome

A diagnosis of Turner syndrome requires appropriate treatmentwhich is to protect the patient against the health consequences of this disease.

If Turner syndrome is diagnosed before the baby is born, no intervention is given. However, it should be remembered that immediately after birth, the child should be referred to an appropriate specialist institution.

If Turner syndrome will be diagnosed in an older child, cardiological diagnostics should be performed along with echocardiography and blood pressure measurement. Further procedure depends on the obtained test results. In addition, due to growth disorders, treatment with somatropin, i.e. growth hormone, is very often started during this period. If the therapy is started relatively early, the girl may grow up to 162 cm in adulthood. That is why it is so important to detect the disease as early as possible.

In adolescence, hormone treatment is introduced. Patients with Turner syndrome then take oestrogens and then progesterone.

In adult patients with Turner syndrome instead, a comprehensive examination of the cardiovascular system is performed. Constant pressure monitoring and imaging tests become essential. In addition, due to the numerous additional conditions that accompany Turner syndrome, it is advisable that patients regularly have thyroid hormone, glucose, liver enzyme tests, hearing and vision assessments, as well as celiac disease tests.

Why is it worth doing genetic testing? Check: What do our genes say about us?

Turner syndrome – treatment and prognosis

Unfortunately, it is still not possible to cure the causes of Turner syndrome, so the methods of treatment are aimed at eliminating the symptoms of this disease. Therefore, treatment in the case of Turner syndrome is based on the treatment of disorders diagnosed in the course of the disease, i.e. the regulation of growth hormones, sex or correction of a heart defect.

For patients struggling with the symptoms of Turner syndrome, psychological help is particularly important, as well as support and acceptance of the family and the immediate environment.

Remember that you can easily consult any doubts related to your health during pregnancy. It is possible via the halodoctor.pl portal.

If you want to know more about gene therapy and its importance in treating inherited diseases, check out: Gene therapy – what is it and in what cases is it used?

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