variety of turner syndrome, known as "ring-x turner syndrome", has about a 60% association with intellectual disability. this variety accounts for around 2–4% of all turner syndrome cases. psychological social difficulties appear to be an area of vulnerability for ts girls. counseling affected individuals and their families about the need to carefully develop social skills and relationships may prove useful in advancing social adaptation. women with turner syndrome may experience adverse psychosocial outcomes which can be improved through early intervention and the provision of appropriate psychological and psychiatric care. genetic, hormonal, and medical problems associated with turner syndrome are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions, and learning ability. although turner syndrome constitutes a chronic medical condition, with possible physical, social, and psychological complications in a woman's life, hormonal and estrogen replacement therapy, and assisted reproduction, are treatments that can be helpful for turner syndrome patients and improve their quality of life. research shows a possible association between age at diagnosis and increased substance use and depressive symptoms. prenatal despite the excellent postnatal prognosis, 99% of turner syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,x karyotype. among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population. cause turner syndrome is caused by the absence of one complete or partial copy of the x chromosome in some or all the cells. the abnormal cells may have only one x (monosomy) (45,x) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one x chromosome (46,x,del(xp)) or the presence of an isochromosome with two q arms (46,x,i(xq)) turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from x-inactivation. in mosaic individuals, cells with x monosomy (45,x) may occur along with cells that are normal (46,xx), cells that have partial monosomies, or cells that have a y chromosome (46,xy). the presence of mosaicism is estimated to be relatively common in affected individuals (67–90%). the (46,x,i(xq) isochromosome in the turner syndrome is classified as an small supernumerary marker chromosome (ssmc). two of the types of ssmcs in this syndrome contain parts of the genetic material from either an x or, much less frequently, y chromosome and may or may not contain an xist gene. in normal females, the xist gene occurs on the x chromosome inherited from her mother but not on the x chromosome inherited from her father. the gene is not present on y chromosomes and in normal females resides on and functions to inactivate many of the genes located on its own maternal but not the father's x chromosome. turner syndrome females with (46,x,i(xq) ssmc consisting of a partial x chromosome that does not contain the xist gene express at least some of this ssmc's genetic material and therefore contain excesses of this material. in consequence, they have a more serious form of the turner syndrome that ranges form moderately severe to extremely severe. the extremely severe cases have anencephaly (absence of a major portion of the brain, skull, and scalp), agenesis of the corpus callosum (lack of the thick tract of nerve fibers that connect the left and right cerebral hemispheres), and complex heart deformities. individuals with turner syndrome that have partial x chromosome containing(46,x,i(xq) ssmcs that have the xist gene do not express this ssmc's genetic material and do not have the more severe manifestations of the syndrome. inheritance in the majority of cases where monosomy occurs, the x chromosome comes from the mother. this may be due to a nondisjunction in the father. meiotic errors that lead to the production of x with p arm deletions or abnormal y chromosomes are also mostly found in the father. isochromosome x or ring chromosome x on the other hand are formed equally often by both parents. overall, the functional x chromosome usually comes from the mother. in most cases, turner syndrome is a sporadic event, and for the parents of an individual with turner syndrome the risk of recurrence is not increased for subsequent pregnancies. rare exceptions may include the presence of a balanced translocation of the x chromosome in a parent, or where the mother has 45,x mosaicism restricted to her germ cells. diagnosis prenatal 45,x karyotype, showing an unpaired x at the lower right turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy. usually, fetuses with turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). in a study of 19 european registries, 67.2% of prenatally diagnosed cases of turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies. an increased risk of turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. the fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities. postnatal turner syndrome can be diagnosed postnatally at any age. often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. however, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). in childhood, a short stature can be indicative of turner syndrome. a test called a karyotype, also known as a chromosome analysis, analyzes the chromosomal composition of the individual. this is the test of choice to diagnose turner syndrome. treatment as a chromosomal condition, there is no cure for turner syndrome. however, much can be done to minimize the symptoms. while most of the physical findings are harmless, significant medical problems can be associated with the syndrome. most of these significant conditions are treatable with surgery and other therapies including hormonal therapy. growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. growth hormone is approved by the u.s. food and drug administration for treatment of turner syndrome and is covered by many insurance plans. there is evidence that this is effective, even in toddlers. a 2019 systematic review comparing effects of adding oxandrolone to growth hormone treatment to growth hormone alone has found moderate-quality evidence that the addition of oxandrolone leads to an increase in final adult height of girls with turner syndrome. when the same review assessed the effects of adding oxandrolone to growth hormone treatment on speech, cognition and psychological status, the results were inconclusive due to very-low quality evidence. estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. estrogens are crucial for maintaining good bone integrity, cardiovascular health and tissue health. 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. in russian and ussr literature, it is called shereshevsky–turner syndrome to acknowledge that the condition was first described as hereditary in 1925 by the soviet endocrinologist nikolai shereshevsky, who believed that it was due to the underdevelopment of the gonads and the anterior pituitary gland and was combined with congenital malformations of internal development. the first published report of a female with a 45,x karyotype was in 1959 by charles ford and colleagues in harwell near oxford, and guy's hospital in london. it was found in a 14-year-old girl with signs of turner syndrome.