Physiological arousal was measured in 12- to 22-year-old females with either fragile X, Turner syndrome, or neither disorder to explore potential differences in the manifestation of arousal and anxiety in adolescents and young women. Physiological arousal was measured at baseline and during performance on mental arithmetic, divided attention, and risk-taking tasks. Contrary to prediction, femal...

We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can ...

An adult female with Turner syndrome presented with severe lymphedema and chylous ascites. In addition, the patient was found to have a right-sided aortic arch and a left-sided inferior vena cava. Although lymphedema is common in infants with Turner syndrome is previously unreported. In this patient, a peritoneo-venous shunt appeared to be beneficial.

Turner syndrome is one of the most common genetic disorders, affecting one in 2,000–2,500 live-born girls. In order to provide appropriate healthcare, a multi-disciplinary team of closely cooperating endocrinologists, gynaecologists, geneticists, cardiologists, otolaryngologists, fertility specialists, psychologists, nurse educators and social workers is needed.

Case A 10-year and 8-month-old girl presented with short stature (body weight 22 kg, body height 116 cm). On physical examination there were bilateral exophthalmus, enlargement of thyroid grade IA, widely spaced nipples, small finger nails. Laboratory findings showed elevated free thyroxin (FT4), decreased sensitive thyroid stimulating hormone (TSHs) and positive anti thyroglobuline. Ultrasonog...

The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolita...

OBJECTIVE To assess muscle fiber composition and capillary density in Turner syndrome, a condition linked with insulin resistance and increased frequency of type 2 diabetes, and link these findings with insulin sensitivity and physical fitness. RESEARCH DESIGN AND METHODS A total of 10 patients with Turner syndrome who were off hormone replacement therapy (aged 32.7 +/- 8.9 years) and a contr...

In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Alth...

We report a case of a young girl with Turner syndrome presenting with a pulsatile left-sided supraclavicular swelling since birth, which proved to be the rare anomaly of a cervical aortic arch. Though elongation of the transverse aortic arch is well known in Turner syndrome, to the best of our knowledge, a cervical aortic arch has not been described in the literature.

Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The...