Xy high phlo low4/20/2023 ![]() When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature. The absence of a copy of the SHOX gene in Turner's inhibits skeletal growth, resulting both in overall short stature and in a distinctive pattern of skeletal malformations including micrognathia (small chin), cubitus valgus (abnormal forearm angles), and short fingers. Short stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. In undiagnosed preadolescents and adolescents, growth delay may be mistaken for a side effect of delayed puberty and improperly treated. ![]() When girls with Turner syndrome begin school, their height is usually still not remarkably unusual marked short stature becomes obvious in mid-childhood. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. Growth delay in Turner syndrome does not begin at birth most neonates with the condition have a birth weight in the lower end of the normal range. The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication. Mosaicism affects height in Turner syndrome a large population sample drawn from the UK Biobank found women with 45,X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2 + 1⁄ 2 in). The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. Turner syndrome is associated with short stature. Height comparison for women with full and mosaic Turner's compared to trisomy X and the general population In 1964, it was determined to be due to a chromosomal abnormality. American endocrinologist Henry Turner first described the condition in 1938. Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. All regions of the world and cultures are affected about equally. Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. Medical care is often required to manage other health problems with which Turner syndrome is associated. Estrogen replacement therapy can promote development of the breasts and hips. Human growth hormone injections during childhood may increase adult height. Diagnosis is based on physical signs and genetic testing. In these cases the symptoms are usually fewer, and possibly none occur at all. The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. No environmental risks are known, and the mother's age does not play a role. ![]() Turner syndrome is not usually inherited rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. Vision and hearing problems also occur more often than average. Most people with Turner syndrome have normal intelligence however, many have problems with spatial visualization that may be needed in order to learn mathematics. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. ![]() Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Signs and symptoms vary among those affected. Turner syndrome ( TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome. Human growth hormone, estrogen replacement therapy Heart defects, diabetes, low thyroid hormone ![]() Webbed neck, short stature, swollen hands and feet Ullrich–Turner syndrome, Bonnevie–Ullrich–Turner syndrome, gonadal dysgenesis 45X, 45X0įive girls and women with Turner syndrome ![]()
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