29 Facts About Turner syndrome

Turner syndrome, known as 45, X, or 45, X0, is a genetic condition in which a female is partially or completely missing an X chromosome.

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.

Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered.

Turner syndrome has a number of physical and psychological impacts, including short stature, heart defects, neck webbing, delayed or absent puberty, and infertility.

The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication.

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When girls with Turner syndrome begin school, their height is usually still not remarkably unusual; marked short stature becomes obvious in mid-childhood.

When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature.

The body shape of individuals with Turner syndrome is frequently quite broad and stocky, as the growth deficiency is more pronounced in the length of bones than in their width.

Facial features associated with Turner syndrome include prominent ears, a low hairline, a webbed neck, a small chin with dental malocclusion, and downslanting palpebral fissures .

The underlying etiology of neck webbing is related to prenatal blood flow issues, and even in populations without Turner syndrome's has broad health consequences; the rate of congenital heart disease in webbed neck is 150-fold higher than in the general population, while the feature is associated with reduced height and minor developmental impairments.

Some women with Turner syndrome's report being unable to create fingerprint passwords due to hypoplastic dermatoglyphics.

Keloids in Turner syndrome are particularly frequent following surgical procedures to reduce neck webbing.

Turner syndrome has been associated with unusual patterns of hair growth, such as patches of short and long hair.

CHDs associated with Turner syndrome include bicuspid aortic valves, coarctation of the aorta, and abnormalities of the arteries in the head and neck.

Coronary artery disease onsets earlier in life in women with Turner syndrome compared to controls, and mortality from cardiac events is increased.

Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension.

Non-alcoholic fatty liver disease is increased in prevalence in Turner syndrome, likely related in part to both conditions' associations with obesity.

Serious complications of the kidney anomalies associated with Turner syndrome are rare, although there is some risk of issues such as obstructive uropathy, where the flow of urine from the kidneys is blocked.

Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population.

Specific autoimmune disorders linked to Turner syndrome include Hashimoto's disease, vitiligo, psoriasis and psoriatic arthritis, alopecia, and celiac disease.

Alopecia in the Turner syndrome context is frequently treatment-resistant, seen in other chromosome aneuploidies such as Down syndrome.

In girls with Turner syndrome who do not experience spontaneous puberty, exogenous estrogen is used to induce and maintain feminization.

Early in gestation, fetuses with Turner syndrome have a normal number of gametes in their developing ovaries, but this starts decreasingly rapidly as early as 18 weeks of pregnancy; by birth, girls with the condition have markedly reduced follicular counts.

Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure, streak gonads and infertility .

Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells.

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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.

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.

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.