There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present.

Additional symptoms of Turner syndrome may include:
a wide, webbed neck
a low or indistinct hairline in the back of the head
swelling (lymphedema) of the hands and feet
broad chest and widely spaced nipples
arms that turn out slightly at the elbow
congenital heart defects or heart murmur
scoliosis (curving of the spine) or other skeletal abnormalities
kidney problems
an underactive thyroid gland
a slightly increased risk to develop diabetes, especially if older or overweight
osteoporosis due to a lack of estrogen