Turner syndrome: an (almost) exclusively female genetic disease

Turner syndrome is a genetic disease discovered in 1928 by physician Henri Turner. This chromosomal abnormality causes many symptoms and discomforts. Sébastien Wambre, president of the “Turner and you” association, tells us more about the issue.

What is Turner Syndrome?

This syndrome is caused by the total or partial absence of one of the two X chromosomes. It is a genetic accident. Indeed, no environmental influence favors its appearance. It is a rare disease, which affects nearly 10,000 women in France.

There are three main forms:

Monosomy : when the loss of the X chromosome is complete. This represents 55% of cases.

Mosaicism : when the loss of the X chromosome does not occur in all cells of the organism, and therefore there are abnormal and normal cells. This is 20% of cases.

deletion : when there are two X chromosomes, one normal, the other present but incomplete. In 25% of cases.

Depending on its form, the syndrome can cause more or less serious symptoms. Sébastien Wambre explains to us that monosomy is generally more severe, for example.

Turner syndrome, an exclusively female disease?

If it concerns overwhelmingly women, it can however happen that Turner’s syndrome is conjugated in the masculine. Thus, Sébastien Wambre explains to us that he has identified around forty cases in France and in neighboring countries. This very small number leads to a lack of recognition and greater medical wandering for those concerned.

A syndrome responsible for 10% of miscarriages

According to the portal for rare diseases and orphan drugs Orphanet, the prevalence of Turner syndrome isone in 2,500 female births. In truth, the disease is much more common at conception, but the pregnancies in question only very rarely come to term (only 2%). On balance, Turner syndrome is responsible for 10% of all spontaneous miscarriages.

Symptoms of Turner Syndrome

The manifestations of Turner syndrome are legion! Patients often have easily identifiable physical characteristics. First of all, a break in their growth curve, which means that on average, in adulthood, a “Turtherian” patient is 1.45 meters tall. In addition, his face has specific features, recognizable by people familiar with the syndrome. Her body is studded with many moles. Also, his feet and hands are swollen.

On the health side, the patient may suffer from vision problems, recurrent ear infections, thyroid gland problems, heart defects, kidney abnormalities, intestinal fragility, bone demineralization but also infertility andlack of spontaneous puberty.

Turner syndrome and intellectual retardation

In the overwhelming majority of cases (although there are always a few exceptions), Turner syndrome does not cause intellectual disability. However, the patient may suffer from learning difficulties, especially in fine motor skills or in the context of logico-mathematical exercises. This does not hinder the school curriculum of the child, who can completely follow a “classic” course, if necessary accompanied by an AVS (school life assistant, supporting students with disabilities), to then integrate the world of work.

Is it possible to get pregnant with Turner syndrome?

Women with Turner syndrome suffer from an abnormality in the functioning of the ovaries, called ovarian dysgenesis. Because of the latter, Turneriennes do not naturally have puberty: the breasts do not develop (or rarely), and the periods do not come. The internal genitalia are normal but remain infantile. In adolescence it is then necessary to opt for a hormonal treatment based on estrogens and progesterone, to trigger the machine. In 1 to 2% of cases, it is possible that pregnancies are observed. In this case, there is a priori no risk of transmission of the syndrome. ” The syndrome resulting from a genetic accident, no research leads to the birth of a hereditary factor to date. »

But generally, Turner syndrome is synonymous withinfertility or difficulty conceiving. Thus, Sébastien Wambre explains to us that most Turneriennes wishing to have children go through an AMP course or through adoption.

Diagnosing Turner Syndrome

Turner’s syndrome can be suspected during ultrasound if the fetus has neck edema, short stature, or heart or kidney malformation. Before birth, the diagnosis can only be made during an amniocentesis performed for another reason (for example in the case of an increased risk of trisomy 21). Growing up, it is possible to suspect Turner syndrome from the patient’s short stature, then her absence of menstruation, and even later if she has difficulty conceiving. Diagnosis can be made at any age by a karyotypea blood drawing technique in which the chromosomes are examined after being arranged in pairs and by size.

Regular medical monitoring

Turner syndrome cannot be cured. However, it is possible to relieve some symptoms. This disease requires very regular medical follow-up (minimum one consultation every 6 months), and multidisciplinary. In general, the referring health professional is an endocrinologist (who studies hormones), or, failing that, a general practitioner. In the event of heart defects, the patient will also have to frequently consult a cardiologist, or even a hepatologist in the case of liver problems. Fortunately, the entire follow-up is reimbursed by the Health Insurance.

Is it necessary to do a treatment for the growth?

Turnerians often observe a break in their growth curve. In response, the majority of parents opt for a growth hormone therapy. Rest assured, it is no longer the treatment of the 80s which then aroused many controversies. The inserm affirms thus: Since 1985, there has been a synthetic hormone that no longer presents the risks of contamination associated with the human hormone used in the 1980s. The use of this hormone is reserved for five specific indications, among which we find Turner syndrome. Despite everything, Sébastien Wambre reminds us that growth hormone treatment is not trivial, is invasive, and requires extensive medical monitoring.

An association: Turner and You

Two associations in France help to spread knowledge about Turner syndrome: Turner and You, as well as AGAT (Association des Groupes Amitié Turner). “ The primary objective is to unite families, who may feel isolated. “, tells us Sébastien Wambre, president of Turner and You, and father of a 13-year-old girl with the syndrome. The association also seeks to democratize and strengthen knowledge about the disease, while making the link with health professionals. ” We want bring the voice of patients. »

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