We meet the rare diseases: Turner's Syndrome

Turner syndrome

Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by the partial or complete absence of one of the X chromosomes. The syndrome is highly variable and the clinical picture of two affected individuals can differ dramatically.

The symptomatology includes: short stature, premature ovarian failure, and thus the inability to enter puberty. Most women are infertile because instead of reproductive organs, they have a streak of connective tissue. Additional abnormalities occur in the eyes, ears, skeleton, heart, and kidneys. Intelligence is usually normal with some learning difficulties. The syndrome can be diagnosed "in utero", after birth or in early childhood. Sometimes even in mature individuals this disease can be discovered accidentally. In most cases, the disease is not familially inherited and occurs sporadically. The syndrome is named after Dr. Henry Turner who first introduced it to the medical literature in 1938, and is considered one of the most common chromosomal disorders in general, and probably the most common genetic disorder in women.


In women with Turner syndrome, one of the two X chromosomes is missing part or all of the X chromosome. The reasons for the mutation are unknown, and most often it occurs "de novo", as a result of an error in the division of the parents' genetic material during conception itself.

Signs and symptoms of Turner Syndrome:

Most symptoms are non-specific, and others may develop gradually or be subtle over time. Not every individual has all the symptoms mentioned. Almost all women with this syndrome are of below average height. For the first few years of life, growth is normal, and then it gradually decreases, so that in puberty the entire peak is absent. Another significant feature of the disease is gonadal dysgenesis, i.e. the irregular development of the ovaries, and therefore most affected patients (due to the lack of sex hormones secreted by the ovaries, estrogen and progesterone) will need hormone-replacement therapy for normal female development. body (initiation of puberty, secondary sexual characteristics, breasts, curves, bone development, menarche). In some individuals, these features can start spontaneously even without hormone therapy, but unfortunately in most the development will stop, as will the menstrual cycle. Usually the sufferers have normal intelligence, but it will be difficult for them to understand visual-spatial connections, left and right orientation, directional sense, learning mathematics, non-verbal memory, social interactions. Their physical appearance is characterized by a short webbed neck, low nape hairline, low-set ears, small narrow fingernails and toenails that grow upwards, broad chest with split nipples, swollen and swollen palms and feet due to lymphedema . In addition, there are also: retracted jaw, strabismus, amblyopia, drooping eyelids, etc. Skeletal malformations are found, including the short bones of the hands and flat feet, and scoliosis occurs in 10% of cases. Cardiac abnormalities associated with this syndrome can lead to severe and life-threatening complications, such as pulmonary hypertension, aortic dissection, or delamination of the aortic walls with the possibility of rupture of the outer layer. Renal abnormalities occur in the form of renal agenesis or absence of kidneys, as well as a horseshoe-shaped kidney. The risk of urinary tract infections and renal hypertension increases. There is also a fatty liver, hypothyroidism, or reduced work of the thyroid gland, which is due precisely to the disturbed immune response of the body, which attacks the cells of the thyroid gland, i.e. a disease known as Hashimoto's thyroiditis. In early childhood, infections of the middle ear often occur, which can turn into chronic otitis media, blocking of sound waves, that is, conductive hearing loss, and thus delayed speech. The condition usually improves as the individual grows and ear infections become rarer. In adults, hearing loss occurs due to the inability of the auditory nerves to transmit signals to the brain (sensorineural hearing loss) and this condition worsens over time.


The treatment of Turner syndrome depends on the symptoms that the patient presents. It usually involves a coordinated approach by teams of specialists composed of pediatricians, surgeons, cardiologists, endocrinologists, speech therapists, otorhinolaryngologists, ophthalmologists, psychologists, and a recommendation for genetic counseling in certain cases. Although there is no cure for this genetic disease, symptomatic therapy given in the right way and in a timely manner can improve development even to the point of a normal and productive life. The primary therapy is hormonal. Growth hormone therapy can normalize height. It is not yet known what is the best age to start recombinant hormone therapy, but it is believed that the earlier it is started, the better the effect would be. As for the therapy with the sex hormones estrogen and progesterone, it should start at the age of 12 to 14, when puberty normally occurs in girls. It is expected to trigger the onset of puberty and secondary sexual characteristics. This hormone-replacement therapy should be given continuously until the age when the patient should be expected to enter menopause. Most patients with Turner syndrome cannot conceive naturally. Sometimes in vitro fertilization with a donated egg and implantation is possible, but under strict medical supervision. Women who carry a certain amount of the U-chromosome in their genetic material, due to the risk of developing gonadoblastoma, it is recommended to surgically remove the non-functional gonadal tissue. Other symptomatic therapy includes thyroid hormone therapy, hearing correction, early intervention in children with a speech therapist, special education teacher, psychosocial support, etc.

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