What is Turner Syndrome?

Do we really promote inclusion? Society is permeated with movements that make us believe that this is the case. But if true, Why do many pathologies remain in the framework of ignorance? Although minority or rare diseases are so named due to the fact that they have a low incidence in the population, they should not have a minority disclosure.

This fact hinders interaction behaviors before an alien and uninformed community, in which unfortunately I include myself. And it is that little time is available to the other, when this is apparently so different from us.

It occurs in the case of Turner syndrome, unknown to the vast majority. Therefore, we are going to give it notoriety in this space, with emphasis on the psychosocial factors.

Turner syndrome (TS), historically also known as Bonnevie-Ullrich-Turner syndrome, is a chromosomopathy consisting of the presence of a single normal X chromosome in women.

The first known clinical description was made by Ullrich in 1930 of an 8-year-old girl with a short stature and a winged neck. Eight years later, Turner published the cases of 7 women with short stature, winged neck, ulna valgus, and sexual infantilism. The cause of this condition was clarified by Ford in 1959 when he demonstrated the absence of one of the X chromosomes in the karyotype of these women.

The main physical manifestations of Turner syndrome are: short stature (100%), abnormal upper / lower segment ratio (97%), Hypoplastic mammae and separateds (80%), cubitus valgus -arms that are directed slightly outward from the elbows- (47%) and Short neck (40%) ².

At a clinical level, it is worth highlighting: infertility (99%), infantilism sexual (96%), cardiovascular abnormalities (55%) and auditory disturbances (fifty %). ²

Psychosocial factors

Given the previous presentation, the need for a multidisciplinary team of health professionals is understandable. This, together with peer support groups, should favor an increase in the quality of life of those affected.

A priori, before the initial diagnosis, the girl should always be considered as an active part of the intervention and thus, have a space where you can resolve doubts and express emotions.

The usual patterns of overprotection by the family only lead to a possible lack of emotional maturity and dependency relationships. These being risk factors for the psychosocial well-being of the girl. For this reason, peer groups can favor the capacity for autonomy with the provision of help exposed to others, such as bidirectional social support on both sides..

All these steps are necessary for a resilient personality to be established and thus, drive away a possible low self-esteem. In any case, external obstacles, whether physical (architectural barriers) or social (school or work refusal), must be raised from the outside. Otherwise, problems of social anxiety or vulnerability to adaptation problems may be established..

Considerations

It is palpable that these factors are associated by the sociocultural context that surrounds us. Therefore, there are still many social and health aspects to be addressed to facilitate full inclusion of affected people and families..

Initially, the process has to be facilitated from two fundamental lines. From childhood for those affected and environment, as well as for the rest, in order to facilitate a normalizing context, and from the administration, establishing real adaptations. For example, in the school environment after an operation or by providing scholarships for costs in physical therapy or dentistry, among other.

There are still many guidelines to create to promote a favorable context. In fact, professional ignorance or lack of interest in acquiring complete competencies in this regard denote its deficits.

In these lines, the message is clear. After a brushstroke knowledge of Tuner syndrome, we see that real inclusion does not exist.

Since it is easier to modify a scenario than a prejudice, perhaps we should facilitate competitions to avoid limiting ourselves to quick insights. Mental shortcuts can lead us to misrepresentations. Our best resource will always be knowledge, perhaps only in this way, we can change the scene or look beyond our own.

References  

1. 1.Ramos, F., & Spanish Society of Pediatric Endocrinology. (2003). Turner syndrome: clinical manifestations Spanish Society of Pediatric Endocrinology, 9, 1-12.
2. Galán Gómez, E. (2010). Diagnostic-therapeutic protocol for Turner syndrome. Diagnostic protocol pediatr, 1, 101-6.