According to the information issued by Excelsior Digital, the specialist in rare diseases Kena Pastrana invited parents, doctors and teachers to pay attention to the possible physical symptoms of girls and stressed the importance of including girls and women who have Turner syndrome.
According to the Ministry of Health, this syndrome is one of the rarest diseases in Mexico, as well as hemophilia, spina bifida and cystic fibrosis. However, Turner syndrome only affects girls and women and is related to a chromosomal abnormality, that is, it is present when there is only one X chromosome in each cell.
The symptoms of this rare disease are presented as different physical characteristics, from having a short and winged neck, low set ears, receding lower jaw, wide chest, abundant moles, to short stature. It is worth mentioning that even when it is not possible to prevent it, Kena Pastrana declared that it can be diagnosed during pregnancy through a DNA study, which also helps detect other possible chromosomal abnormalities, or with ultrasounds that can guide doctors for early detection.
In addition to this, the specialist clarified that although Turner syndrome has to do with genetics, this condition also occurs randomly, that is, a mother who has this condition will not necessarily have a girl with the same condition.
However, Kena considers that it is extremely important that fathers and mothers go to the doctor constantly to attend to their daughters, as well as to be attentive to the possible presence of one of the physical symptoms related to the disease that appear with time. Over the years.
In some cases, all the cells have this partial or total absence of the X chromosome and in some others, only a part, depending on this the clinical manifestations can go unnoticed and become more evident as the girl grows older or, at times , from birth you can make the diagnosis, which must be genetic.
On the other hand, Kena emphasized that society must unite so that girls who suffer from this disease do not suffer from social isolation, for which she assured that it is necessary to spread information to create awareness and that an environment free of discrimination is created from home. .
We are a society that is not very educated on many issues and this lack of education, because it makes us consciously or unconsciously relegate many of our boys and girls.
#Health / What is Turner Syndrome? https://t.co/7YxSAaPhxL
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