[1] Those affected do not normally develop menstrual periods or mammary glands without hormone treatment and are unable to reproduce without assistive reproductive technology.

Small chin (micrognathia), loose folds of skin on the neck, slanted eyelids and prominent ears are found in Turner syndrome, though not all will show it.

[15] Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility.

[9] Around 40%–50% of cases of Turner syndrome are true "monosomy X" with a 45,X0 karyotype, while the remainder are mosaic for another cell line, most commonly 46,XX, or have other structural abnormalities of the X chromosome.

These include a short, webbed neck, low hairline, small chin and lower jaw, arched palate, and broad chest with widely-spaced nipples.

[31] 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.

These are thought to be related to lymphedema during the fetal period, specifically to the presence and resorption of excess fluids in the head and neck region.

Though traditional medical counselling on the topic urges conservatism about elective procedures such as ear piercing due to the risk of severe scarring, the actual consequences are unclear.

CHDs associated with Turner syndrome include bicuspid aortic valves (30%), coarctation of the aorta (15%), and abnormalities of the arteries in the head and neck.

[17] A rare but potentially fatal complication of heart defects in Turner syndrome is aortic dissection, where the inner layer of the aorta tears open.

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

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

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

The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the short arm of the X chromosome (Xp).

[47][48] Ptosis, or a drooping eyelid, is a common facial manifestation of Turner syndrome; it usually has no appreciable impact on vision, but severe cases may limit visual range and require surgical correction.

Specific autoimmune disorders linked to Turner syndrome include Hashimoto's disease, vitiligo, psoriasis and psoriatic arthritis, alopecia,Type I diabetes, and celiac disease Type I diabetes, when the immune system attacks the beta cells in the pancreas, is a major autoimmune disorder and is much more common in Turner females than 46,XX and 47,XXX females in most cases.

Hypothyroidism is prevalent; 30%–50% of women with Turner syndrome have Hashimoto's disease, where the thyroid gland is slowly destroyed by an autoimmune reaction from the immune system.

Vitiligo has been reported in conjunction with Turner syndrome, but the risk is unclear and may be a side effect of increased clinical attention to autoimmune disease in this population.

Estrogen replacement is recommended to begin at around age 11–12, although some parents prefer to delay the induction of puberty in girls with lower social and emotional preparedness.

Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood.

While very few women with Turner syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining ("withdrawal bleeding") to prevent its overgrowth.

[citation needed] Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g., 45,X/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended.

[57][58] Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients).

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.

[65] Despite the excellent postnatal prognosis, 99% of Turner syndrome conceptions are thought to end in miscarriage or stillbirth,[66] and as many as 15% of all spontaneous abortions have the 45,X karyotype.

[67][68] 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.

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.

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.

[93] In modern times, advocacy groups have played a vital role in raising awareness and offering support to those with TS, helping to reduce stigma and provide better access to medical care.