AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). Patients with Turner syndrome are at risk of congenital heart defects (e.g., coarctation of aorta, bicuspid aortic valve) and may have progressive aortic root dilatation or dissection. These patients also are at risk...

We report two patients with Turner syndrome who had aortic dissection and rupture, one with prior repair of coarctation. We also note the high incidence (8.8%) of unrecognized aortic root dilation in a group of 57 patients with Turner syndrome whom we prospectively evaluated by echocardiography. Our analysis and review of previously reported cases suggests that multiple risk factors may exist f...

In women with Turner syndrome, the risk of death from aortic dissection or rupture during pregnancy may be 2%, and this risk persists during the postpartum period owing to pregnancy-related aortic changes. Turner syndrome is a relative contraindication for pregnancy; however, it is an absolute contraindication for pregnancy in a patient with a documented cardiac anomaly. This document replaces ...

This mini review summarizes papers presented in a Joint Symposium between the Bone, Growth Plate and Turner Syndrome Working Groups of the European Society for Paediatric Endocrinology (ESPE) that was held on September 9, 2009, in New York.The program had been composed to give an update on hormones and genes of importance in bone physiology and their influence on bone mineralization and growth ...

present as an abnormal maternal screening test result or abnormal ultrasonography finding, this condition is not typically associated with structural abnormalities or abnormal maternal serum screening profiles. Therefore, prenatal diagnosis of Turner syndrome is complicated, and most cases are diagnosed incidentally or postnatally. In 1997, Lo et al. [3] demonstrated that fetal cell-free DNA (c...

Multiple thoracic vascular anomalies have been described in the setting of Turner syndrome. Careful evaluation of both venous and arterial anatomy in the chest is prudent when evaluating these cases. By highlighting the less commonly associated vascular malformations in Turner syndrome through key images, we intend to raise awareness and familiarity of these potentially clinically significant a...

The nails are affected by several dermatological and systemic diseases, and it is uncommon to find an isolated nail abnormalities. However, there are some diseases, in which the nails are affected primarily and similarly there are syndromes in which the nails affection is one of its major components. Some medical conditions in which there is a link to the nails are known eponymously (Tabl. I). ...