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Genetic and Rare Diseases Information Center (GARD)

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Empty sella syndrome


Other Names for this Disease

  • Empty sella turcica
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What is empty sella syndrome? What are the unusual facial features associated with the syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is empty sella syndrome?

Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland.[1] There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy.[1][2] Some people with ESS have no symptoms.[2] People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.[1]
Last updated: 7/14/2014

Are unusual facial features associated with the syndrome?

Empty sella syndrome does not cause unusual facial features. This condition often isn't evident until imaging studies of the pituitary gland shows that the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland, is empty.[3] 

However, there are a number of rare syndromes where empty sella syndrome may occur in combination with numerous other symptoms. For some of these syndromes differences in facial features is characteristic, for example autosomal recessive Robinow syndrome,[4] orofaciodigital syndrome 11,[5] and Donnai Barrow syndrome.[6]

If you feel that you or someone you know may have one of these syndromes, you may find it helpful to consult with a genetic professional. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

  * The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. Some of the geneticists listed are involved in research only and do not offer medical care. 
http://genetics.faseb.org/cgi-bin/ASHG-Search

Last updated: 3/11/2010

References
Other Names for this Disease
  • Empty sella turcica
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.