Addressing the most adverse effects of Turner Syndrome in a timely manner not only reduces physical damage but also has an emotional and social impact. For this reason, the Institute of Social Security and Services for State Workers (ISSSTE) promotes early diagnosis and provides highly specialized multidisciplinary treatment for this condition. This was reported by the person in charge of the Medical Genetics service of the National Medical Center (CMN) “November 20”, María del Carmen Chima Galán.
Why is it generated?
The total or partial loss of an “x” chromosome causes Turner syndrome, which greatly affects the quality of life and social integration of girls and women who suffer from it, in childhood they do not grow enough, later they do not menstruate and do not they develop secondary sexual characteristics, he explained.
He emphasized that early diagnostic confirmation and close monitoring from infancy are very important for them to receive the maximum benefits from hormonal therapies.
“In the CMN ’20 de Noviembre ‘Medical Genetics service we attend annually between 12 and 14 girls with Turner syndrome from different states of the country. They represent 10 percent of the entire consultation and it is one of the main chromosomal alterations that we see ”.
Specialists who must attend to patients
In the multidisciplinary care of these patients, geneticists participate in collaboration with the specialties of pediatric endocrinology, psychology, internal medicine, cardiology and orthopedics, to attend to the different alterations that girls present, in addition to general practitioners.
“First with growth hormone, to help them reach a height as close to normal, later, in adolescence, with steroid hormones, which will help them develop secondary sexual characteristics and reduce or avoid the risk of osteoporosis, due to the relevance of these in bone mineralization ”.
To achieve the best results, these therapies are indicated at precise moments in development, hence the importance of keeping them under close medical surveillance.
Other phenotypic physical manifestations of Turner syndrome are the presence of a short and wide neck, a wide chest, alterations in the ears and extremities, such as shortening of the third and fourth fingers of the hands.
It can also be associated with congenital heart disease, hypothyroidism and learning problems (in some cases math is difficult for them), especially when the condition is due to the lack of a specific fraction of the “x” chromosome.
According to the specialist, Turner syndrome has a worldwide prevalence of one case for every 2,500 newborns. While in Mexico the latest INEGI report mentions that there are around 28 thousand patients with this alteration.
The specialist highlighted the importance of making visible the discrimination suffered by patients with Turner Syndrome due to their different conditions. He said that some go on to develop severe depression, the majority do not marry and only 10 percent get to have a sexual life.