What are the symptoms of Turner syndrome?

Turner syndrome is a chromosomal condition with a wide range of features. A baby may have swelling of the hands or feet, loose skin at the neck, or heart and kidney differences. During childhood, slower growth may become noticeable. In adolescence, puberty may be delayed or periods may not start because the ovaries do not function typically. Some adults are diagnosed after fertility difficulties or investigations for heart, hearing, thyroid, or kidney concerns. Not every person has every feature.

Speak with a clinician if growth is slower than expected, puberty has not begun, periods have stopped, or fertility is a concern. Diagnosis is usually considered alongside physical findings, growth history, hormone tests, and chromosome analysis. Once Turner syndrome is identified, care may include checks of the heart, kidneys, hearing, thyroid, blood pressure, and bone health. A genetics team can explain what a chromosome result means for you or your child.

Arrange medical review for delayed puberty, stopped periods, or unexplained growth concerns. Seek urgent help for chest pain, severe breathlessness, fainting, sudden weakness, or severe headache. These symptoms can have causes unrelated to Turner syndrome but should not be ignored.

Ask which tests are appropriate, which specialist reviews are needed, how puberty and bone health can be supported, and whether premature ovarian insufficiency should be considered.