For the first time, a woman affected by Turner syndrome, a chromosomal abnormality associated with infertility, gave birth to a healthy baby from her frozen eggs. What are the symptoms of this pathology? Explanations.
- Turner syndrome affects one in 2,500 women, i.e. nearly 10,000 women in France.
- It is much more frequent at conception, but only 2% of affected fetuses reach term. Thus, it is the cause of 10% of all spontaneous miscarriages.
A “world premiere”. On 24 February, doctors from the center for reproductive medicine at UZ Brussel announced, in a statement, that a woman suffering from Turner syndrome had recently given birth to a healthy baby born from her own oocytes after treatment at the Belgian hospital. Practitioners reported that egg freezing increased the likelihood of future pregnancy with one’s own eggs and offered new prospects for patients with Turner syndrome.
According to Pr Michel De Vos, fertility specialist at Brussels IVF, “it is important that the young girl benefits from correct psychological and medical support so that she has all the information required and can think carefully about this process”which can be considered from puberty and is preceded by a hormonal cure. “But raising the awareness of treating physicians and parents is also crucial in this area”he continued.
Why is the case of this first mother with Turner syndrome a feat?
The case of this patient is important because Turner syndrome, which exclusively affects women, is associated “almost constantly to stunted growth and ovarian failure with infertility”, precise the High Authority for Health (HAS). It is a rare genetic disease. In this case, little girls are born with a total or partial absence of one of their two X chromosomes. According to the Orphanetthis chromosomal abnormality occurs accidentally. “No environmental factor, including maternal age, appears to influence the occurrence” of this condition, can we read on the site of the portal dedicated to rare diseases and orphan drugs.
What are the symptoms of Turner syndrome?
This genetic pathology is characterized by short stature and malfunction of the ovaries. “The other abnormalities are inconsistent: phenotypic particularities of varying intensity, congenital malformations (cardiac, renal), as well as an increased risk of acquired pathologies (cardiovascular, ENT, autoimmune, metabolic…)”, specify the Endocrinology, Metabolic Diseases and Internal Medicine departments at Pitié Salpêtrière. The HAS specifies that the cognitive performances of the patients are, in general, satisfactory. According to the MSD Manuala medical information portal, these clinical signs, which are variable, can occur at birth or later, after the age of 6 years.
How to diagnose and treat this genetic disease?
A doctor may suggest a diagnosis of Turner syndrome if the infant has symptoms suggestive of the disease. However, this chromosomal abnormality can be ignored until adolescence, when the child’s short stature or an absence of menstruation is noticed. To confirm the diagnosis, an analysis of the chromosomes through a blood test must be carried out. The healthcare professional may also perform an echocardiogram or MRI to detect any heart problems.
“Treatments aim to correct hormonal deficiencies, to monitor the possible consequences of various metabolic disorders and to intervene surgically when a cardiac or renal malformation is operable”, develops the Orphanet.
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