Recently, doctors from the Center for Reproductive Medicine at UZ Brussel communicated about a success : a patient with Turner syndrome had managed to have a healthy baby. How is this a feat? To understand it, let’s go back to what Turner syndrome is and its side effects, especially in women.
An incurable syndrome
First, Turner syndrome is incurable. We are born with. If it can be diagnosed in utero, it is often discovered late, too late to limit its impact. It is caused by the partial or total deletion of one of the two X chromosomes. It is the analysis of the chromosomes which makes it possible to confirm that the disease is present, in addition to imaging tests and blood tests.
“Turner syndrome affects about 1 in 2,500 newborn girls. In fact, the disease is even more common at conception, but spontaneous abortion occurs in 99% of cases,” note the MSD manual.
A syndrome responsible for infertility
In girls, it causes stunted growth, excess skin around the neck, learning disabilities and a lack of puberty : it is on this point that the information from UZ Brussel is particularly interesting first of all. In adolescence, girls do not have menstrual cycles. “DIn most cases, their vagina, uterus and labia retain a prepubescent appearance”, says MSD. In 90% of cases, connective tissue replaces the ovaries and eggs are absent. Having a baby in these conditions is therefore extraordinary.
These symptoms may vary from case to case. Sometimes patients have oocytes, but these disappear much earlier. In fact, it is possible for these women to have their eggs retrieved at puberty. The latter often needs to be triggered via synthetic hormones. “Some young girls with Turner syndrome lose all their eggs at an early age, sometimes even before puberty. If necessary, they cannot freeze them”, specifies the UZ Brussel.
To get pregnant, infertility treatments are necessary in most cases. The patient in question, treated in Brussels, was able to benefit from the early oocyte retrieval method to have a healthy baby at age 25.
What are the other symptoms?
Other symptoms exist: high blood pressure, diabetes mellitus, hearing loss, strabismus, celiac disease, swelling of the hands and feet at birth, heart defects… Some are manifest at birth, others only appear during childhood (around 6 years old) or later.
Growth hormones and female hormones help treat the effects of the disease. There may also be surgical repairs of heart defects. Patients with this syndrome are regularly assessed to monitor complications that may arise at various times in life.
Sources: MSD Manuals, UZ Brussel
Read also :
- PMA for all is now authorized in France
- After IVF, women are 26% more likely to have a premature child
