Resumo

DOMINGUEZ HERNANDEZ, Carolina et al. Turner syndrome: experience with a select group from the Mexican population. Bol. Med. Hosp. Infant. Mex. [online]. 2013, vol.70, n.6, pp.467-476. ISSN 1665-1146.

Background. Turner syndrome (TS) is a condition that presents in females with partial or total absence of the X chromosome. The aim of this article is to describe, in a select group of patients with Turner syndrome, comorbidity associated with this entity, diagnostic difficulties and some aspects related to the social environment of these patients. Analyzed data were obtained from members of the Turner Syndrome Association of Mexico AC. Methods. A questionnaire was administered and anthropometric measurements and laboratory studies were performed to explore comorbidities as well as diagnostic and social problems presented in these patients. Results. There was a delayed diagnosis and inadequate follow-up of these patients with poor detection of comorbidities and a probable lack of social integration of those females born with this syndrome. Conclusions. We need to continuously educate the medical community in regard to early detection and referral of these patients, both in the primary care setting as well as in the community, and also to implement strategies to improve social performance of those with Turner syndrome.

Palavras-chave : Turner syndrome; comorbidities; diagnosis; monitoring; medical treatment.

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