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Updated: Jun 9, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

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Multiple Spontaneous CSF Leaks in a Patient With Turner Syndrome: A Case Study.

Amelia L Podolny¹, Catherine L Kennedy², Meredith E Adams³

¹University of Minnesota Medical School Minneapolis Minnesota USA.

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|June 8, 2026

Summary

Patients with Turner syndrome may develop skull base defects due to chronic ear infections and intracranial hypertension. These potential complications should be considered during diagnosis and treatment.

Keywords:

CSF leak Turner Syndrome encephalocele intracranial hypertension

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Area of Science:

Otolaryngology
Genetics
Neurology

Background:

Turner syndrome is associated with a higher incidence of ear abnormalities, increasing susceptibility to chronic otitis media.
Patients with Turner syndrome have an increased risk of developing intracranial hypertension.
Both chronic otitis media and intracranial hypertension are known risk factors for skull base defects.

Purpose of the Study:

To highlight the association between Turner syndrome, ear abnormalities, intracranial hypertension, and skull base defects.
To raise awareness among clinicians regarding potential skull base defects in patients with Turner syndrome.

Main Methods:

Literature review of cases involving Turner syndrome and skull base abnormalities.
Analysis of pre-existing clinical data and case reports.

Main Results:

Ear abnormalities and chronic otitis media are common in Turner syndrome.
Intracranial hypertension is a recognized complication in Turner syndrome.
Skull base defects should be considered in the differential diagnosis for patients with Turner syndrome presenting with relevant symptoms.

Conclusions:

Skull base defects are a potential, often overlooked, complication in patients with Turner syndrome.
Early recognition and management of ear abnormalities and intracranial hypertension may help mitigate the risk of skull base defects.
A high index of suspicion is warranted for skull base defects in the clinical evaluation of Turner syndrome patients.