Management and prognosis

Girls affected with Turner's syndrome usually are infertile and have primary amenorrhoea. They usually do not attain an adult height above 1.5 metres. Affected individuals have good mental development but there are commonly specific learning difficulties. Lifespan is not affected.

Early diagnosis enables specific hormone replacement to be administered:

• human growth hormone, possibly in conjunction with an anabolic steroid, may be used to increase height.
• oestrogens, for example, ethinyl oestradiol, may be used to enable secondary sexual characteristics to be attained. As the dose required increases, cyclical oestrogen / progestogen should be given. Long term treatment until the age of the natural menopause is necessary to maintain bone density but unfortunately, in the absence of regular encouragement, compliance may be poor.

In the rare cases of mosaics with Y chromosomes the gonads should be removed due to the 50% risk of neoplasia.