Empty sella syndrome

Is empty sella syndrome inherited?

Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. 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.

Last updated on 05-01-20

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. 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. Some people with ESS have no symptoms. 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.

Last updated on 05-01-20

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.

However, there are a number of rare syndromes where empty sella syndrome may occur in combination with numerous other symptoms. Some of these syndromes are known to cause facial differences, for example autosomal recessive Robinow syndrome, orofaciodigital syndrome 11, and Donnai Barrow syndrome.

If you feel that you or someone you know may have one of these syndromes, you may find it helpful to talk to 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.

Last updated on 05-01-20

What is the long-term outlook for people with empty sella syndrome?

Empty sella syndrome (ESS) is not a life-threatening illness. In most cases, especially in people with primary ESS, there are no symptoms and it does not affect life expectancy. 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.

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.

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 on 05-01-20

Name: Hormone Health Network United States Toll Free: 1-800-HORMONE (1-800-467-6663) Email: hormone@endocrine.org Url: https://www.hormone.org
Name: The Pituitary Foundation 86 Colston Street Bristol BS1 5BB
United Kingdom
Phone: 0117 370 1320 Email: helpline@pituitary.org.uk Url: https://www.pituitary.org.uk/
Name: Pituitary Network Association P.O. Box 1958
Thousand Oaks, CA, 91358 , United States
Phone: +1-805-499-9973 Fax : +1-805-480-0633 Email: info@pituitary.org Url: https://pituitary.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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