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 instruct your body how to develop and function. Typically, a person has 46 chromosomes, including the two “sex chromosomes” that determine gender. Females usually have two X chromosomes.
TS occurs in about 1 in 2,000 female births worldwide. The reason for the missing or changed X chromosome appears to be a random event, so any girl could be born with TS.
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 (with an average adult height of about 4’8”, if untreated) and ovaries that do not produce female hormones or eggs. As adults, most women with TS cannot become pregnant without medical help.
Apart from short stature, there may be other physical features:
Early diagnosis and treatment of Turner syndrome in girls can help promote normal growth and development.
Head and neck
Hands, arms, and feet
Girls and women with TS are at risk for congenital (present at birth) abnormalities of the heart and kidneys, high blood pressure, chronic or repeated middle ear infections, hearing loss, diabetes, underactive thyroid gland, bowel disorders, and non-verbal learning disabilities (like difficulty with math). Other possible medical problems include being overweight, dental crowding, and osteoporosis (brittle bones).
Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self-esteem, anxiety, or depression.
Physical features may suggest TS, but the only reliable way to diagnose the condition is by a karyotype analysis. In this test, a blood sample is examined under a microscope to detect missing or altered chromosomes.
Because TS is a genetic disorder, there is no cure, but some of its symptoms can be treated individually. Although TS is a lifelong condition, it can be successfully managed. Two options are: