Turner syndrome: an (almost) exclusively female genetic disease

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

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. In fact, no environmental influence favors its appearance. It is a rare disease that affects almost 10,000 women in France.

There are three main ways:

monosomy : when the loss of the X chromosome is total. This represents 55% of cases.

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

suppression : 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 severe symptoms. Sébastien Wambre explains to us that monosomy is generally more severe, for example.

Turner syndrome, an exclusively female disease?

If it is mostly women, it may happen that Turner syndrome is conjugated in masculine. Thus, Sébastien Wambre explains to us that he has identified some forty cases in France and neighboring countries. This tiny number leads to lack of recognition and greater medical rambling of those affected.

A syndrome responsible for 10% of spontaneous abortions

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 rarely go to term (only 2%). In short, Turner syndrome is responsible for 10% of all 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 his growth curve, which means that, on average, in adulthood, a “Turtherian” patient is 1.45 meters tall, moreover, his face has specific features, recognizable by people familiar with the syndrome. His body is full of 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 vast majority of cases (although there are always some exceptions), Turner syndrome does not cause intellectual disability. However, the patient may experience learning difficulties, especially in fine motor skills or in the context of logical-mathematical exercises. Cela n’entrave pas le cursus scolaire de l’enfant, que peut tout à fait suivre un parcours «classique», au besoin accompanied by an AVS (auxiliaire de vie scolaire, épaulant des elèves in situation of handicap), for ensuite integrate him World of work.

Is it possible to get pregnant with Turner syndrome?

Women with Turner syndrome have an abnormality in the function of the ovaries, called ovarian dysgenesis. Because of the latter, Turnerians don’t naturally go through puberty: breasts don’t develop (or rarely) and periods don’t 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 activate the machine. In 1 to 2% of cases, pregnancies may be seen. In this case, a priori there is 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, in general, Turner syndrome is synonymous withinfertility or difficulty conceiving. Thus, Sébastien Wambre explains to us that the majority of Turneriennes who wish to have children go through an AMP course or through adoption.

Diagnosis of Turner syndrome

Turner syndrome may be suspected during an ultrasound if the fetus has neck swelling, 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, Turner syndrome may be suspected by the patient’s short stature, then by the 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 chromosomes are examined after they have been sorted into pairs and by size.

Periodic medical control

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

Is it necessary to do a treatment for the growth?

Turnerians often see a break in their growth curve. In response, most parents opt for a growth hormone therapy. Rest assured, it’s no longer the 1980s treatment that sparked so much controversy back then. The inserm states thus: Since 1985, there has been a synthetic hormone that no longer has the contamination risks 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, it is invasive and requires extensive medical monitoring.

A partnership: 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 main 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 establishing a link with health professionals. ” We want carry the voice of patients. »