Women with Turner syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis and heart conditions. Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman. Uterine maturity is positively associated with years of estrogen use, history of spontaneous menarche, and negatively associated with the lack of current hormone replacement therapy. Epidemiology
Turner syndrome occurs in between one in 2000 and one in 5000 females at birth.Approximately 99 percent of fetuses with Turner syndrome spontaneously terminate during the first trimester. Turner syndrome accounts for about 10 percent of the total number of spontaneous abortions in the United States. History
The syndrome is named after Henry Turner, an endocrinologist from Illinois, who described it in 1938. In Europe, it is often called Ullrich–Turner syndrome or Bonnevie–Ullrich–Turner syndrome to acknowledge that earlier cases had also been described by European doctors Kristine Bonnevie and Otto Ullrich.
Growth hormone treatment plays an unclear role in diabetes risk, as does estrogen supplementation.The association between Turner syndrome and other diseases, such as cancer, is unclear. Overall, women with Turner syndrome do not appear more likely to develop cancer than women with 46,XX karyotypes, but the specific pattern of what cancers are highest risk seems to differ. The risk of breast cancer appears lower in Turners than in control women, perhaps due to decreased levels of estrogen. Neuroblastoma, a cancer of infancy and early childhood, has been reported in girls with Turner syndrome. Tumours of the nervous system, both the central nervous system and the peripheral nervous system, are overrepresented amongst cancers in Turner syndrome. Furthermore, about 5.5% of Turner syndrome individuals have an extra, abnormal small supernumerary marker chromosome (sSMC) which consists of part of a Y chromosome. This partial Y chromosome-bearing sSMC may include the SRY gene located on the p arm of the Y chromosome at band 11.2 (notated as Yp11.2). This gene encodes the testis-determining factor protein (also known as sex-determining region Y protein). Turner syndrome individuals with this SRY gene-containing sSMC have a very real increased risk of developing gonadal tissue neoplasms such as gonadoblastomas and in situ seminomas (also termed dysgerminomas to indicate that this tumor has the pathology of the testicular tumor, seminoma, but develops in ovaries).