New Test for Early Diagnosis of Turner Syndrome

A new study has proved the efficiency of a novel and accurate test for the early detection of Turner syndrome.

Turner syndrome (TS) is the most frequent genetic problem that affects girls with short stature, and it occurs when an X-chromosome is completely or partially deleted.

One in 1,500 to 2,000 live newborn girls is affected, and the best chance of recovery the patient has, is given by an early diagnosis, which allows the timely management of short stature and co-morbid conditions, including cardiac and renal problems.

This new study suggests that there is a new way to diagnose TS, before it's too late, and Scott Rivkees, MD, of Yale University School of Medicine in New Haven, Connecticut and lead author of the study explains:

“We have developed a novel approach for diagnosing TS that can be used to practically test large numbers of girls and is much quicker and less expensive than the current methods.

“The new test would also provide the benefit of early detection of other health conditions associated with TS, such as potential renal and cardiac problems.”

The researchers developed a test based on a quantitative method of genotyping to detect X-chromosome abnormalities, and of 90 individuals tested with clinically-confirmed TS the new method identified 87, which means 96.7 percent.

Rivkees said that “because of the small amount of DNA needed for the test, ample DNA can be extracted from cheek swabs or from newborn screening blood spots that are routinely collected.

“If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS.”

Girls with TS that remain untreated reach an average height of 4 feet 8 inches (1m42), unlike the cases that are diagnosed early enough, so that a growth hormone therapy can be initiated, and a normal or near-normal stature can be achieved.

The big problem until was that most cases are not identified until after the child turns ten.

The study was accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology & Metabolism (JCEM).