Turner syndrome (TS) is a chromosomal disorder that is not generally inherited.  It affects one in 2,000 female births and is therefore considered a rare disease. There are approximately 70,000 women and girls affected with TS in the United States. 

 

TS is a variable condition.  Due to the unique genetic makeup of each person, some are affected minimally, while others display more significant symptoms and characteristics.

 

 

Some characteristics of TS include:

 

• Intelligence typical of general population 

• Delayed puberty 

• Heart defects 

• Puffy hands and feet (especially at birth)

• Infertility due to nonfunctional ovaries

• Kidney, thyroid and liver concerns

• Hearing loss

• Recurring ear infections

• Learning difficulties (i.e. math) with normal intelligence

• Scoliosis

• Social difficulties

Plus traits such as:   Short stature (under 5 feet) Webbed neck Many moles Low-set ears Receding lower jaw

 

 

 

 

 

 

 

 

 

 

 

Turner syndrome can be diagnosed throughout the lifespan - it can be discovered prenatally with an amniocentesis or into adulthood with a blood test called a karyotype.  It is believed that half of all diagnoses occur after age 9. 

 

Continued advancements in growth hormone and estrogen replacement therapy have allowed females to keep up with "typical" growth and puberty, but there is still more research that needs to be done on additional treatments.