Turner syndrome: experience with a select group from the Mexican population

2013 
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. r esults. 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. c onclusions. 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. dilatation of the aortic root. 3-10 A higher incidence of other comorbidities also exists that, if not detected in time, decrease the quality of life of girls with TS and their families. Among these are obesity (30%), arterial hypertension (50%), glucose intolerance (15-50%), type 2 diabetes mellitus (10%), autoimmune diseases such as hypothyroidism (15-30%), alopecia (5%), vitiligo (5%), psoriasis (<5%) and juvenile rheumatoid arthritis (<5%). Other conditions include recurrent otitis media (90%), renal malformations (40%), neurosensorial deafness (27%), strabismus (18%), ptosis (13%), scoliosis (10%), celiac disease (2-10%), gonadoblastoma (7%) when there are sequences of the Y chromosome (can be avoided with prophylactic gonadectomy). The risk of developing colon cancer is unknown, In T roduc TI on Turner syndrome (TS) is a condition that presents itself in women with total or partial absence of the X chromosome. It is estimated that it occurs in 1/2,500-3,000 live newborn females. However, 99% of the cases of TS with karyotype (45,X0) result in spontaneous abortion. 1-3 TS is a genetic disorder that may be accompanied by comorbidities such as cardiovascular malformations, which have been reported with a frequency of 17-45% without a clear correlation of the phenotype-genotype. The bicuspid aortic valve and coarctation of the aorta are the most common disorders. Patients with any of these alterations have a greater risk of presenting progressive
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