Extract

What is Turner syndrome?

Turner syndrome (TS) is a genetic condition that occurs when a female infant is born with a missing or changed X chromosome. Chromosomes contain the genes that determine physical and developmental features. TS occurs in about 1 in 2,000-2,500 female births worldwide. The reason for the missing or changed X chromosome appears to be a random event. Thus, any girl can be born with TS.

What are the features and risks associated with Turner syndrome?

The features of TS can vary widely from patient to patient, so the condition may not be diagnosed until a girl reaches the age of puberty or even later. The most common features of TS are short stature and ovaries that do not produce hormones or ova (female eggs required for fertility). As adults, most women with TS are unable to become pregnant without medical help.

Apart from short stature, other physical features may include:

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