Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome

Abstract

Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication.

Inpatient epidemiology, healthcare utilization, and association with comorbidities of Turner syndrome: A National Inpatient Sample study

“…A recent study from Denmark found that use of hormone replacement therapy among patients with TS was associated with a lower risk of hypertension and ischemic stroke, suggesting a role of estrogen deficiency in the pathogenesis of impaired metabolic profile and cardiovascular complications (Viuff et al, 2020). However, hemorrhagic stroke has been described only in case reports and was not discussed in the recent guidelines (Gravholt et al, 2017; Hori et al, 2018; Manjila et al, 2014; Silberbach et al, 2018). The results of the current study may serve as a reminder to clinicians that the risk of hemorrhagic stroke is also heightened in this group of patients.…”