How is Empty Sella Syndrome diagnosed?

Empty Sella Syndrome is primarily diagnosed through neuroimaging, such as an MRI or CT scan, which reveals a flattened or shrunken pituitary gland within the bony structure of the skull known as the sella turcica. Because many individuals are asymptomatic, the diagnosis is often incidental, though patients with symptoms require comprehensive hormonal evaluations to assess pituitary function.

How is Empty Sella Syndrome diagnosed?

The diagnostic process for Empty Sella Syndrome usually begins when a physician orders brain imaging for unrelated symptoms, such as persistent headaches or vision changes. While the "empty" appearance on imaging confirms the anatomical finding, confirming a clinical diagnosis involves a multi-step approach:

• Imaging: MRI of the brain is the gold standard to visualize the pituitary gland and the subarachnoid space.


• Endocrine Testing: Because the pituitary controls vital hormones, doctors perform blood panels to check levels of cortisol, thyroid hormones, prolactin, and growth hormones.


• Ophthalmological Exam: A visual field test may be conducted to ensure the structural changes in the skull are not compressing the optic chiasm.

Which specialists manage Empty Sella Syndrome?

If you suspect you have Empty Sella Syndrome, you should consult an endocrinologist, who specializes in hormonal imbalances. Depending on your symptoms, you may also be referred to a neurologist or a neurosurgeon. Because rare diseases often involve a "diagnostic odyssey," it is common for patients to see multiple specialists before receiving an accurate diagnosis. Many of the 15 community members on DiseaseMaps.org who live with Empty Sella Syndrome report that persistence in seeking these specific specialists was key to their care.

What conditions are confused with Empty Sella Syndrome?

It is easy to misdiagnose Empty Sella Syndrome because its symptoms—such as fatigue, headaches, and menstrual irregularities—overlap with other endocrine disorders. Differential diagnoses often include pituitary adenomas (tumors), pseudotumor cerebri, or primary hypothyroidism. Distinguishing between primary Empty Sella Syndrome (congenital) and secondary causes (such as trauma, radiation, or surgery) is essential for effective management.

Next steps

• Request a referral to an endocrinologist if you have unexplained hormonal symptoms.


• Keep a detailed log of your symptoms to share with your specialist.


• Join the Empty Sella Syndrome community on DiseaseMaps.org to connect with others who understand the diagnostic journey.


• Ensure your imaging records are reviewed by a neuroradiologist familiar with pituitary anatomy.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.

References

• National Institute of Neurological Disorders and Stroke (NINDS) - Empty Sella Syndrome Information Page


• NIH Genetic and Rare Diseases (GARD) Information Center


• Orphanet: Portal for rare diseases and orphan drugs


• The Pituitary Foundation: Resources for patient support and clinical information