Turner Syndrome (TS) Clinical Trials and Treatments

Turner syndrome (TS) results from complete or partial absence of an X chromosome in phenotypic females, with karyotypes ranging from complete 45,X monosomy (occurring in ~50-60% of patients) to various mosaic forms (45,X/46,XX and others in ~40-50%). The condition presents with short stature (average adult height approximately 4'8", approximately 7-10 cm shorter than age-matched female population), gonadal dysgenesis leading to streak gonads, primary amenorrhea, and infertility. Distinctive somatic features include webbed neck, shield chest, widely spaced nipples, and characteristic facial features including micrognathia and low-set ears.

The most common symptoms of Turner Syndrome include Short stature, Ovarian failure and amenorrhea, Infertility, Cardiac abnormalities (bicuspid aortic valve, coarctation), Renal anomalies, among others. Turner Syndrome affects approximately 1 in 2,000 to 3,000 live female births. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Turner Syndrome from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Growth hormone therapy significantly improves final height when initiated early (ideally before age 4, certainly by ages 9-10 at latest) and can increase final height by 4-8 cm on average. Oxandrolone (anabolic steroid) may be used as adjunctive therapy.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Turner Syndrome. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Turner Syndrome is caused by a change in chromosome structure or number rather than a single gene. A chromosomal condition (45,X or mosaic), diagnosed by karyotype rather than gene sequencing; loss of one SHOX copy explains the short stature. Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero. The condition affects approximately 1 in 2,000 to 3,000 live female births.

Yes. Turner Syndrome is a chromosomal condition rather than a single-gene one, so the test is a chromosomal microarray, FISH, karyotype or DNA methylation study, depending on the change, not gene sequencing. A chromosomal condition (45,X or mosaic), diagnosed by karyotype rather than gene sequencing; loss of one SHOX copy explains the short stature.

Most cases arise from a new variant not carried by either parent, so the chance of it recurring in a sibling is low but not zero.

The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Turner Syndrome clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Turner Syndrome clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.