What is Turner syndrome?

Genetic condition

Turner syndrome

Turner syndrome is a genetic disease that affects only women and, in particular, one woman in every 2000-2500. This syndrome was named after the American physician Henry Turner, who, in 1938, described seven young women that shared characteristics common to the syndrome, such as short stature and an absence or incomplete development of secondary sexual characteristics.

What Causes Turner Syndrome?

One of the main causes of the syndrome is either the partial or total absence of the X chromosome or the structural change of this chromosome. An error in the formation of sexual cells or in cell division can cause it. This is not a genetic disease, and these alternations appear to be a result of unpredictable events. Family history does not seem to influence the development of the disease.

What are the symptoms of Turner syndrome?

There are many symptoms and clinical signs of Turner syndrome, which can be divided according to the phase in which they occur. As such, there are symptoms typical of the first phase, namely prenatal and childhood, as well as those characteristics of the second phase, namely adolescence to adulthood.

Phase I

The following is a breakdown of symptoms based on the organ system affected:

  • Lymphatic system

Lymphedema is a condition characterized by stagnation of lymph fluid in some parts of the body, causing localized swelling, most commonly on the neck and, in children, the hands, feet, and ankles.

  • Cardiac system

The presence of an aortic valve with a bicuspid valve, as well as coarctation, stenosis, or regurgitation itself, are among the evidence of congenital cardiovascular abnormalities.

  • Renal system

Three out of every hundred women are born with congenital renal anomalies. Women with this condition are more likely to suffer from urinary tract infections, hypertension, have a horseshoe kidney, don't develop one or both kidneys (renal agenesis), or have a poor blood supply to the kidneys.

  • Auditory system

A recurrent, medium, acute, or effusive otitis over time also similarly damages the auditory system.

  • Other physical anomalies

Women with Turner syndrome display several physical characteristics during their first years of life. In addition to their short stature and very slow growth rate, women with Turner syndrome have twisted necks, ptosis, and epicanthus (eye malformations), low ears, prominent eye pavilions, ovigaval palate (upper palate and hyperconvex), narrow upturned nails, numerous black spots, a small jaw, small fingers, and toes.

Phase II

As the woman with Turner syndrome progresses to the second phase, she manifests defects in her stature and problems with her reproductive system:

  • Defects in stature

As an adolescent and adult, the patient has short stature. The patients are, in particular, smaller than the average of their peers, especially since adolescence. With Turner syndrome, a woman can only grow to the height of 1.40 centimeters and this is determined by hormonal factors that prevent her from developing.

  • Reproductive system

In regards to the ovaries, their failure to mature results in insufficient levels of female hormones such as estrogen and progesterone, and this, in middle age, prevents menstruation from occurring and, consequently, is a cause of infertility.

Other signs and symptoms

Aside from these clinical manifestations, the syndrome causes aortic problems, defects in the visual apparatus (lazy eye, myopia, strabismus) as well as skeletal problems (scoliosis and hyperkyphosis, and with time, osteoporosis due to the low estrogen intake).

In terms of cognitive abilities, Turner syndrome can also cause difficulties in learning non-verbal skills, whereas patients have different strengths when it comes to verbal skills. Despite having a high level of intelligence that allows them to lead a normal life, women with the syndrome often suffer from psychological issues caused by their physical condition.

How is Turner Syndrome diagnosed?

Turner syndrome can be diagnosed through a genetic test focused on analyzing the chromosome profile. With the help of a blood sample, it's possible to determine if an X chromosome is present or absent, or whether it has been altered in any way. Additionally, fetal DNA tests, amniocentesis, and CVS can be used to make a prenatal diagnosis.

How is Turner Syndrome treated?

Although there is no cure for the syndrome, various treatments are available to alleviate the symptoms and main clinical signs. Each patient will have a treatment plan that takes into account both their specific needs and the severity of their disease. Multiple specialists are involved in the management of care, including (endocrinologist, cardiologist, orthopedist, geneticist, urologist, gastroenterologist, dentist, and otolaryngologist). On the hormonal side, the use of GH, growth hormone (which helps in improving the lack of development of a patient's stature) and female sex hormones (estrogen and progesterone) is fundamental to promote the development and cause a regular cycle. In most cases, hormone therapy is continued until menopause.

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