What are the other Names for this Condition? (Also known as/Synonyms)

• Empty Sella Turcica
• ESS (Empty Sella Syndrome)

What is Empty Sella Syndrome? (Definition/Background Information)

• 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

(Source: Empty Sella Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Empty Sella Syndrome? (Age and Sex Distribution)

• Empty Sella Syndrome may be seen in both children and adults. The presentation of symptoms may occur at birth in some cases
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Empty Sella Syndrome? (Predisposing Factors)

The risk factors for Empty Sella Syndrome (secondary) may include:

• Trauma to the pituitary gland
• Presence of a tumor affecting the pituitary gland
• Radiation treatment of tumors in the pituitary gland
• Surgery involving the pituitary gland

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Empty Sella Syndrome? (Etiology)

• Empty Sella Syndrome (ESS) is typically not inherited. However, there is a single case 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

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

(Source: Empty Sella Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Empty Sella Syndrome?

The signs and symptoms of Empty Sella Syndrome may include:

• Abnormality of the rib cage
• Abnormality of the skin
• Arachnoid cyst
• Arnold-Chiari type I malformation
• Biconcave vertebral bodies
• Coarse hair
• Generalized hypotonia
• High palate
• Joint hypermobility
• Long philtrum
• Motor delay
• Patent ductus arteriosus
• Platybasia
• Sclerosis of skull base
• Short nasal bridge
• Vertebral fusion
• Occasionally present symptoms in 5-29% of the cases: Bicuspid aortic valve

(Source: Empty Sella Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Empty Sella Syndrome Diagnosed?

Empty Sella Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Empty Sella Syndrome?

The complications of Empty Sella Syndrome may include:

• Heart defects
• Intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Empty Sella Syndrome Treated?

The treatment for Empty Sella Syndrome is usually given to manage the signs and symptoms and any complications that develop.

How can Empty Sella Syndrome be Prevented?

• Currently, Empty Sella Syndrome may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Empty Sella Syndrome? (Outcomes/Resolutions) 

• 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

(Source: Empty Sella Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Empty Sella Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/