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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Bicuspid aortic valve	Occasional (present in 5%-29% of cases)
Abnormality of the middle ear ossicles	-
Abnormality of the rib cage	-
Abnormality of the skin	-
Arachnoid cyst	-
Arnold-Chiari type I malformation	-
Autosomal dominant inheritance	-
Biconcave vertebral bodies	-
Coarse hair	-
Conductive hearing impairment	-
Cryptorchidism	-
Dental crowding	-
Dolichocephaly	-
Downslanted palpebral fissures	-
Dural ectasia	-
High palate	-
Hypertelorism	-
Inguinal hernia	-
Joint hypermobility	-
Kyphosis	-
Long philtrum	-
Low-set ears	-
Malar flattening	-
Meningocele	-
Micrognathia	-
Motor delay	-
Muscular hypotonia	-
Patent ductus arteriosus	-
Pectus excavatum	-
Platybasia	-
Posteriorly rotated ears	-
Ptosis	-
Sclerosis of skull base	-
Scoliosis	-
Short nasal bridge	-
Short neck	-
Smooth philtrum	-
Syringomyelia	-
Umbilical hernia	-
Vertebral fusion	-
Wormian bones	-

Last updated: 9/1/2017

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]^[5] 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.^[5]

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

Do you have updated information on this condition? Let us know.

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/
The Pituitary Society
VA Medical Center
423 East 23rd Street
Room 16048aW
New York, NY 10010
Telephone: 212-263-6772
Fax: 212-447-6219
E-mail: http://www.pituitarysociety.org/members/contact
Website: http://www.pituitarysociety.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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. Accessed 6/19/2014.
Empty sella syndrome. MedlinePlus. November 7, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/000349.htm. Accessed 7/14/2014.
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. Accessed 6/19/2014.
Empty Sella Syndrome. MedlinePlus. May 16, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000349.htm. Accessed 6/23/2014.