Empty sella syndrome

Title

Other Names:

Empty sella turcica

Categories:

Nervous System Diseases

Summary Summary

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

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Percent of people who have these symptoms is not available through HPO
Abnormality of the rib cage		0001547
Abnormality of the skin		0000951
Arachnoid cyst		0100702
Arnold-Chiari type I malformation		0007099
Autosomal dominant inheritance		0000006
Biconcave vertebral bodies		0004586
Coarse hair	Coarse hair texture	0002208
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High palate	Elevated palate Increased palatal height [ more ]	0000218
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Long philtrum		0000343
Motor delay		0001270
Patent ductus arteriosus		0001643
Platybasia		0002691
Sclerosis of skull base	Dense bone of skull base	0002694
Short nasal bridge	Decreased length of bridge of nose Decreased length of nasal bridge Short bridge of nose [ more ]	0003194
Short stature	Decreased body height Small stature [ more ]	0004322
Vertebral fusion	Spinal fusion	0002948

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children.^[3] Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect directly causes ESS or is only a predisposing factor.^[4]

Last updated: 6/23/2014

Prognosis Prognosis

Empty sella syndrome (ESS) is not a life-threatening illness.^[1] In most cases, especially in people with primary ESS, there are no symptoms and it does not affect life expectancy.^[4]^[2] ESS is often found incidentally on an X-ray when people are being evaluated for other reasons. Therefore, many people with ESS are probably never diagnosed. Some researchers have estimated that less than 1% of affected people ever develop symptoms of the condition.^[4]

People with normal pituitary function usually do not need any treatment. Some people (particularly those with secondary ESS) may need hormone replacement therapy. In a few cases, surgery may be needed to repair the sella turcica.^[2]

If a person has ESS that is associated with an underlying condition, the long-term outlook (prognosis) may depend on that of the specific condition present.

Last updated: 6/23/2014

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The Pituitary Network Association provides a list of pituitary specialists.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Hormone Health Network
Toll-free: 800-HORMONE (1-800-467-6663)
E-mail: hormone@endocrine.org
Website: http://www.hormone.org
Pituitary Network Association
P.O. Box 1958
Thond Oaks, CA 91358
Telephone: 805-499-9973
Fax: 805-480-0633
E-mail: info@pituitary.org
Website: http://www.pituitary.org/
The Pituitary Foundation
P.O. Box 1944
Bristol BS99 2UB
United Kingdom
E-mail: helpline@pituitary.org.uk
Website: http://www.pituitary.org.uk/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Empty sella syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is this hereditary? My daughter was diagnosed at age 4 with empty sella and I'd like to know if having this for life will affect her later. See answer
What is empty sella syndrome? What are the unusual facial features associated with the syndrome? See answer

Have a question? Contact a GARD Information Specialist.

References References

Empty Sella Syndrome Information Page. NINDS. November 21, 2013; http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm.
Empty sella syndrome. MedlinePlus. November 7, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/000349.htm.
Colliot S, Heim M, Vincentelli JM, Jaquet P, Simonin R. [Familial primary empty sella turcica. Apropos of a family with 3 cases]. Ann Endocrinol (Paris). 1990; 51(1):39-42. Accessed 6/23/2014.
Empty Sella Syndrome. NORD. February 7, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/635/viewAbstract.