Turner syndrome

Short stature

Short stature is nearly universal and is often the first sign. It is partly due to loss of the SHOX gene on the X chromosome, which is important for bone growth.

Obesity

Obesity is commonly seen in turner syndrome.

Coarctation of aorta

Coarctation of the aorta, a narrowing of the body's main artery, occurs in roughly 15-30% and can be life-threatening, so it is screened for early. Together with aortic dilation, it underlies the risk of aortic dissection.

Hypertension

High blood pressure (hypertension) is commonly seen in turner syndrome.

Bicuspid aortic valve

A bicuspid aortic valve (the main heart valve having two leaflets instead of three) is one of the common congenital heart findings and needs cardiac monitoring.

Aortic dissection

Aortic dilatation (widening of the main artery from the heart) and aortic dissection (a tear in its wall) are increasingly recognized in turner syndrome.

Hashimoto thyroiditis

Hashimoto's thyroiditis, an autoimmune condition of the thyroid gland, is part of the autoimmune disease spectrum seen in turner syndrome.

Delayed puberty

Puberty is typically delayed or does not start on its own, because the ovaries do not produce enough estrogen. This is usually managed with hormone therapy.

Alopecia

Alopecia areata, patchy hair loss with an autoimmune cause, is part of the autoimmune disease spectrum seen in turner syndrome.

Autoimmunity

Autoimmune disorders, in which the immune system attacks the body's own tissues, are associated with turner syndrome.

Lymphedema

Swelling of the hands and feet (lymphedema) from immature lymphatic vessels is often noticed in infancy.

Hepatic steatosis

Fatty change in the liver (steatosis) is among the liver abnormalities commonly seen in turner syndrome.

Type II diabetes mellitus

Type 2 diabetes is among the endocrine disorders associated with turner syndrome.

Horseshoe kidney

Malformations of the kidney and ureter are common in turner syndrome; horseshoe kidney in particular is associated with the non-mosaic 45,X form.

Female infertility

Most women with Turner syndrome are infertile because of the ovarian insufficiency, though assisted-reproduction options such as donor eggs exist.

Premature ovarian insufficiency

Because the ovaries fail early (primary ovarian insufficiency), puberty is usually delayed or absent and the body lacks estrogen unless it is replaced.

Gonadal dysgenesis

The ovaries usually do not develop properly (gonadal dysgenesis), so they make little estrogen and few or no eggs.

Hearing impairment

Sensorineural hearing loss, the most common type of hearing loss, affects more than half of adults with turner syndrome.

Celiac disease

Coeliac (celiac) disease is part of the autoimmune disease spectrum seen in turner syndrome.

Cirrhosis

Scarring of the liver (cirrhosis) is among the liver abnormalities that can occur in turner syndrome.

Webbed neck

A webbed neck (extra folds of skin at the sides of the neck) is a recognizable feature, reflecting lymphatic differences before birth.

Osteoporosis

Osteoporosis, a thinning and weakening of the bones, is associated with turner syndrome.

growth hormone

Recombinant human growth hormone, given through childhood and adolescence, is used to improve final height. It is supportive treatment, not a cure for the chromosomal condition.

Used to help with: Turner syndrome.

estradiol

Estrogen replacement, usually with estradiol (often a transdermal patch started around age 11-12), is used to induce puberty and then maintained to protect bone and cardiovascular health. It does not restore fertility.

Used to help with: Turner syndrome.

mosaicism

Not everyone has 45,X in every cell. Mosaic forms (for example 45,X/46,XX), seen in a sizeable minority, mean some cells keep two sex chromosomes. The proportion and type of the altered cell line influence how mild or severe the features are.

Described as modulating: Turner syndrome.