OBJECTIVE To analyse the structural and functional abnormalities in the large arteries in women with the Turner syndrome. METHODS Aortic stiffness (assessed by means of the carotid femoral pulse wave velocity), level of amplification of the carotid pressure wave (by applanation tonometry), and carotid remodelling (by high resolution ultrasound) were studied in women with the Turner syndrome. ...

BACKGROUND Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control...

Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium ...

Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-ye...

PURPOSE To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome a...

The aim of this study was to examine executive function (EF) skills in girls with fragile X or Turner syndrome, using the Contingency Naming Test (CNT). The CNT is a Stroop-like task involving a 1- or 2-attribute contingency rule. We predicted that girls with fragile X would make errors reflecting poor cognitive flexibility and working memory limitations. We predicted that girls with Turner syn...

The Medical Journal of Australia ISSN: 0025-729X 7 June 2004 180 11 584-584 ©The Med ical Jou rnal of Aus tral ia 2004 www.mja.com.au Snapshot CARDIOVASCULAR MALFORMATIONS occur in up to 47% of women with Turner syndrome. Aortic dissection, a devastating and often fatal condition, occurs more frequently in women with Turner syndrome than in the general population (0.8% v 0.00001%), particularly...

CONTEXT Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. OBJECTIVE To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. METHODS Fifty-six females with...

Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome So...

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner syndrome, respectively). Differences between girls with ...