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Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features, physical traits and medical conditions that are caused by the complete or partial absence of one X chromosome.
Typically, females have 46 chromosomes which include two X chromosomes, while males have one X and one Y chromosome.
It is estimated that TS occurs in approximately
one in 2,000 live female births.
Girls who are missing one complete X chromosome have what is called monosomy X, often referred to as 'classic TS'.
Others are missing only a part of the second X chromosome, or have some structural rearrangements of the chromosome.
Girls who have a missing or rearranged chromosome in some but not all cells of the body have a mosaic karyotype.
The features of TS can vary widely and it is important to note that not all the features described will be seen in your child. Some girls and women with TS or mosaic TS have minimal or no symptoms.
TS occurs when all or part of one of the X chromosomes is absent or altered before or soon after the time of conception. It is not connected to or passed on from either parent, and there is nothing a person can do to increase or decrease the likelihood of their child having TS.
The diagnosis of TS is made by looking at the complete set of chromosomes of the individual. This is called a karyotype. A karyotype shows the number and visual appearance of the chromosomes found in the cells of a person.
While it is not possible to cure TS, much can be done to make sure your child has the best possible outcome.
The multidisciplinary medical team looking after your child will be able to address specific medical concerns and routine TS-related healthcare issues.
Treatment for those with TS should be individualised. Doctors, families and patients should decide on treatment options together.
Ongoing evaluation of the heart, liver, thyroid and hearing is needed from birth and throughout adult life.
Growth hormone (GH) therapy is recommended for short stature to optimise final height potential.
GH can be started at 4-5 years of age, and involves an injection given daily via the subcutaneous route. GH therapy is generally continued until a child reaches her final height.
For girls with pubertal failure, puberty can be initiated with the use of oestrogen replacement therapy. Oestrogen therapy is also important for the prevention of osteoporosis.
Oestrogen can be given in the form of a tablet, skin patch or injection. Progesterone is added after oestrogen to help to produce withdrawal bleeds (like periods). Once hormone treatment has begun, it is usually continued throughout life.
Below are some related medical issues and how they can be managed:
The social and psychological impact of TS cannot be underestimated and should be a priority in the care of any girl or woman with the condition. It is highly beneficial for them to connect with others who share similar experiences and concerns.