In detail

Turner syndrome in pregnancy

Turner syndrome in pregnancy

Question:

- I am 32 years old and I lost a pregnancy of 10 weeks with the diagnosis of Turner Syndrome 45. I know we will have to do genetic tests, but I have the following two questions: From a statistical point of view, the couples who had this problem could have children without problems or this Syndrome is not occasional (accidental), considering that both my husband and I had only heart disease in the family? Will genetic testing provide a clear answer to the risk for the following tasks? Thank you

Answer:


The classic Turner syndrome is characterized by primary amenorrhea (lack of menstruation), genital hypoplasia and skeletal malformations. The vulva, vagina, and uterus are present; also the ovaries but the latter have a rudimentary appearance and are inactive (absence of ovarian follicles).
These changes also imply primary sterility, so women with this abnormality cannot have children. From the hormonal point of view, an increase of FSH (follicle stimulating hormone) is identified, due to the absence of these follicles, but estrogen is missing.
There is indeed a syndrome called paraturnerian, in which the clinical aspects are close to the true Turner syndrome, but from a genetic point of view, the karyotype differs from that of the Turner syndrome, with a mosaicism in this sense, a possibility that might explain the presence of your case.

Performing the genetic tests will be able to clarify the type of genetic modification existing in your case and will be able to provide data regarding the risks of occurrence of a genetic as well as morpho-functional abnormalities in the case of a future pregnancy.
Dr. Ciprian Pop-Began
- Obstetrics and Gynecology - Clinical Hospital of Obstetrics-Gynecology Prof. Dr. Panait Sarbu