An observational study in Turner Syndrome, Peripheral Angiopathy and Vascular Malformation, sponsored by University Hospital, Strasbourg, France. Terminated at 6 sites in France. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-08-21.
Sponsored by University Hospital, Strasbourg, France · Observational
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility.
Other anomalies are inconstant: morphological characteristics of varying intensity, associated malformations, and increased risk of acquired diseases ...
The prognosis of patients reaching the Turner Syndrome is linked to cardiovascular complications (congenital heart disease, dilatation of the ascending aorta with risk of dissection or rupture of aneurysm), causing early mortality with reduction of life expectancy of at least 10 years.
For these reasons, screening for heart disease and dilatation of the ascending aorta is established and is intended to prevent the complications associated with medical treatment and / or surgery to increase life expectancy and reduce the co-morbidities.
On the vascular level, the recommendations other than those relating to the monitoring of the diameter of the ascending aorta include research of renal artery stenosis by doppler ultrasound if the patient is hypertensive and looking for lymphedema.
However, other arterial lesions were described in the literature, outside of the aneurysm of the ascending aorta. These peripheral arterial lesions can also be life and / or functional prognosis of the patient. Ascending aorta dilation seems not to be exclusive in Turner syndrome.
In addition, specific vascular lesions outside the affected artery are described: hepatic cirrhosis by vascular depletion, lymphedema and varicose veins. The prevalence of venous or lymphatic disease is unknown.
A single-center review of 9 cases of patients followed at the University Hospital of Strasbourg showed the presence of vascular lesions discovered incidentally during assessments performed for reasons other than cardiovascular screening: cystic lymphangioma, internal carotid aneurysm, agenesis of the inferior vena cava, early varicose veins, embryonic cerebral artery, etc ... None of these patients showed any dilatation of the ascending aorta or heart disease. Peripheral vascular abnormalities in this patient group are exclusive.
In this study, we seek to demonstrate that arterial disease in Turner syndrome involve the entire arterial territory and is not confined to the ascending aorta. Screening for arterial lesions should be performed on the entire arterial vascular tree and regularly in the course of time, especially as the presence of cardiovascular risk factors increases with the age of these patients.
The venous and lymphatic vascular damage in the literature and in our series of cases in University Hospital of Strasbourg description should also lead to the detection of these lesions.
These vascular complications can be alone responsible for the reduction in life expectancy or responsible for serious morbidity. Improved screening of associated vascular lesions is necessary to enable the best prevention of cardiovascular complications.
It is also to establish the prevalence of vascular anomalies, whether arterial, venous or lymphatic, to better understand the disease and its management. By collecting systematically karyotype leading to diagnosis, it may be possible to make a link between the genetic defect and heart or vascular disease.
125 studies on the registry are indexed under Turner Syndrome; 33 are open to participants now.
This study's enrollment of 72 is below the median of 164 across 70 observational studies indexed under Turner Syndrome.
Browse Turner Syndrome studies →University Hospital, Strasbourg, France is the lead sponsor of 999 studies on the registry; 358 are open to participants now.
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All patient with Turner Syndrome.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Topic featuring against-indications for MRI examination:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Procedure: Echo doppler
vascular ultrasound explorations
Collection of clinical events and systematized vascular ultrasound explorations
Reports of annual clinical events and results of complementary cardiovascular investigations. Systematized arterial and venous ultrasound explorations once a year. Reports karyotype used to put the diagnosis of turner Syndrome to perform correlations karyotype - phenotype and karyotype - event. Annual standardized biological exploration.
Time frame: Annual evaluation with a 5 years follow-up
Ran from Jul 2013 to primary completion in Dec 2022, 112 months.
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This study is terminated, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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University Hospital, Strasbourg, France →