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Turner syndrome is a condition in which a girl or woman is partially or completely missing an X chromosome. It can cause infertility and heart problems and alter a female’s appearance.
Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms, including human growth hormone and estrogen replacement therapy.
Turner Syndrome Turner syndrome is a condition in which a girl or woman is partially or completely missing an X chromosome. It can cause infertility and heart problems and alter a female’s appearance. NICHD plays a leading role in advancing research on Turner syndrome by supporting the investigation of its physical and emotional effects as well as potential therapies.
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body.
NICHD conducts and supports research on Turner syndrome and on many disorders associated with Turner syndrome.
Find answers to other common questions about Turner syndrome, such as how Turner syndrome is inherited, can it be prevented, and complications with the condition.
Many factors can affect whether a person with Klinefelter syndrome has no, mild, or severe symptoms.
Down syndrome is a set of cognitive and physical symptoms that result from having an extra chromosome 21 or an extra piece of that chromosome. It is the most common chromosomal cause of mild to moderate intellectual disabilities. People with Down syndrome are at risk for several other health conditions.
Sometimes, a parent who does not have Down syndrome may carry a translocation in chromosome 21 that can be passed on to children and cause Down syndrome. Studying the parents’ chromosomes can reveal whether this is the cause of the syndrome.
The PAG program has developed a protocol for ovarian tissue cryopreservation for prepubertal children with Turner syndrome, classic galactosemia and adolescents with recent primary ovarian insufficiency (POI). In this protocol one ovary will be removed, 80% of the tissue will be stored for future use by the patient and 20% will be saved for research with the following aims: