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Women with Turner syndrome have a chromosomal abnormality that happens when they lose all or part of one X chromosome. People with Turner syndrome usually have 45 chromosomes instead of the normal 46. They might also have mosaic versions. This genetic condition has an effect on growth, reproduction, and various organ systems.

One of the most prominent indicators is that children are short. Another indicator is that the ovaries don't work right, which can lead to delayed puberty, infertility, and low oestrogen levels. Some physical features that may be evident at birth are a webbed neck, a large chest with widely separated nipples, a low hairline, and lymphoedema (swelling of the hands and feet). Some patients may also have problems with their hearts, including coarctation of the aorta, or with their kidneys.

Most people are smart, but some may have problems learning, especially when it comes to mathematical or spatial skills. Karyotype analysis, which looks for problems with chromosomes, backs up the diagnosis.

The goal of management is to improve quality of life, growth, and advancement. You might have growth hormone therapy to help you grow taller, and oestrogen replacement therapy to help you start puberty and keep your bones strong. It's crucial to check for health concerns that are related to each other on a frequent basis, especially in conditions like Turner syndrome, where growth and hormonal issues are interconnected.