Diagnosing Turner Syndrome

The Importance of An Early Diagnosis of Turner syndrome

Who should be tested?

As soon as indications are noticed a female should be screened for Turner Syndrome. Only some infants will have obvious characteristics at birth (lymphedema, webbed neck, heart anomalies, etc.), and for many these characteristics may become evident as she grows or fails to grow, or if other symptoms develop. It is recommended by the American Medical Association that girls below the 5th percentile in height be screened, especially when combined with some of the physical features listed in the common indications check list.


Babies are not routinely screened for Turner Syndrome at birth, and many infants do not have identifying characteristics; therefore, more than 50% of babies with TS are identified later in life.

What is the testing method for diagnosis?

uring pregnancy, Turner syndrome may be diagnosed by chorionic villi sampling (CVS) or after 13 weeks gestation, amniocentesis or even a sonogram requiring further evaluation. Sometimes, fetuses with Turner Syndrome are identified by abnormal ultrasound findings (i.e. heart defect, kidney abnormality, cystic hygroma, ascites). After birth she can have a simple blood test called a karyotype, which is the gold standard for testing. This test requires a blood draw and usually will require a two week waiting period for results. This test will check for the absence of all or part of one X chromosome.

When should you be tested?

Screening for Turner Syndrome should not be delayed, as there are other important health screenings of organ and lipid function, and interventions that could benefit a young child that would not have the same effect in an older child. If a child exhibits common traits indicated, she should be screened without delay to rule out this potential syndrome

Where can we turn to for help?

The best source of information is a pediatric endocrinologist who specializes in the care of patients with Turner Syndrome. Do your own investigative research and read everything you can. Familiarize yourself with the Clinical Guidelines, join parent groups and attend workshops or webinars whenever possible. Information for an infant is quite different and will evolve over various stages of life. It will be important to be vigilant about ongoing self-advocacy, education, support services and care.

Who will provide medical care?

Your primary care doctor may refer you to an endocrinologist when there is suspicion or a known problem with your endocrine system. Endocrinologists are trained to diagnose and treat hormone imbalances and problems by helping to restore the normal balance of hormones in your system. They take care of many conditions including:

Thyroid diseases
Metabolic disorders
Over or under production of hormones
Pubertal development and menopause
Lipid disorders, i.e. cholesterol
Short Stature

Endocrinologists also conduct basic research to learn the way glands work, and clinical research to learn the best methods to treat patients with a hormone imbalance. Since Turner syndrome is a complex condition affecting each person uniquely, patients may be seen by any number of specialists; including, cardiology, nephrology, dermatology, gastroenterology, orthodontic, orthopedic, ENT, ophthalmology, psychiatry, and so on. 

Genetic Counseling

Genetic testing may be performed prenatally or sometime after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor. 

Finding specialized care for Turner Syndrome can be challenging, and we are dedicated to expanding this network of support.

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