Turner syndrome is a hereditary disease Discovered by doctor Henri Turner in 1928. This chromosomal abnormality causes many symptoms and ailments. Sébastien Wambre, President of the “Turner and you” association, tells us more about the topic.
What is Turner Syndrome?
This syndrome is caused by the total or partial absence of one of the two X chromosomes and is a genetic accident. In fact, no environmental influence favors its appearance. It’s a rare disease that affects almost 10,000 women in France.
There are three main forms:
monosomy : when the loss of the X chromosome is complete. This corresponds to 55% of the cases.
mosaic : 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 the cases.
deletion : when two X chromosomes are present, one normal, the other present but incomplete. In 25% of the cases.
Depending on the severity, the syndrome can cause more or less serious symptoms. Sébastien Wambre explains to us, for example, that monosomy is generally more difficult.
Turner Syndrome, an exclusively female disease?
However, when it predominantly affects females, Turner syndrome may be conjugated in the male. 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 among those affected.
A syndrome responsible for 10% of miscarriages
According to the Rare Diseases and Orphan Drugs Orphanet portal, the prevalence of Turner syndrome is highone in 2,500 female births. In fact, the disease occurs much more frequently during conception, but the pregnancies involved are very rare (only 2%). Overall, 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, a break in their growth curve, resulting in a “turtherian” patient averaging 1.45 meters in adulthood, and his face displaying specific features recognizable by those familiar with the syndrome . Her body is covered with many birthmarks. In addition, his feet and hands are swollen.
On the health side, the patient can suffer from vision problems, recurring ear infections, thyroid problems, heart defects, kidney abnormalities, bowel weakness, bone demineralization, but also infertility andLack of spontaneous puberty.
Turner syndrome and mental retardation
In the overwhelming majority of cases (although there are always some exceptions), Turner syndrome does not cause intellectual disability. However, the patient can suffer from it learning disabilities, especially in fine motor skills or in the context of logical-mathematical exercises. This does not interfere with the school curriculum of the child, who can follow a “classic” course entirely, possibly accompanied by an AVS (school life coach, supporter of students with disabilities) to then integrate the world of work.
Can you get pregnant with Turner syndrome?
Women with Turner syndrome suffer from a dysfunction of the ovaries called ovarian dysgenesis. For this reason, Turneriennes do not naturally have puberty: the breasts do not (or rarely) develop and the periods do not come. The internal genitals are normal but remain infantile. In adolescence it is then necessary to opt for hormone 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, a priori there is no risk of transmission of the syndrome. ” The syndrome results from a genetic accident, to date no research leads to the birth of a hereditary factor. »
But in general, Turner syndrome is synonymous withInfertility or difficulty conceiving. Sébastien Wambre explains to us that most gymnasts who want to have children go through an AMP course or an adoption.
Diagnose Turner Syndrome
Turner syndrome may be suspected during ultrasound if the fetus has neck edema, short stature, or abnormal heart or kidneys. Before birth, the diagnosis can only be made as part of an amniocentesis performed for another reason (e.g. when there is an increased risk of trisomy 21). In adulthood, Turner syndrome can be suspected due to the patient’s short stature, then due to the absence of menstruation, and even later, when she has difficulty conceiving. The diagnosis can be made at any age a karyotypea blood drawing technique in which the chromosomes are examined for pairing and size.
Regular medical surveillance
Turner syndrome is not curable. 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 a multidisciplinary one. Generally, the referring healthcare professional is an endocrinologist (who studies hormones) or, if that is not possible, a general practitioner. In the case of heart defects, the patient must also often consult a cardiologist or, in the case of liver problems, even a hepatologist. Fortunately, all aftercare is reimbursed by health insurance.
Is it necessary to treat the growth?
Turnerians often see a break in their growth curve. In response, most parents choose to a growth hormone therapy. Rest assured, it’s no longer the ’80s treatment that sparked much controversy back then. The Inserm thus affirms: A synthetic hormone has been available since 1985 that no longer poses 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 non-trivial, invasive and requires extensive medical supervision.
One association: Turner and you
Two associations in France are helping to spread knowledge about Turner syndrome: Turner and You and AGAT (Association des Groupes Amitié Turner). “ The main goal is to unite families who may feel isolated. Sébastien Wambre, president of Turner and You and father of a 13-year-old girl with the syndrome, tells us. The association also seeks to democratize and strengthen knowledge about the disease while connecting with health professionals. ” We want Bring the voice of the patient. »
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