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

• GHD Disorder

What is Growth Hormone Deficiency Disorder? (Definition/Background Information)

• Growth Hormone Deficiency (GHD) Disorder is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired
• Most cases are identified in children. Although it is uncommon, Growth Hormone Deficiency Disorder may also be diagnosed in adults
• Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults
• Most of the time, no single clear cause can be identified but several genetic causes of GHD Disorder have been described, such as mutations in the POU1F1/Pit1, PROP1 GHRH and GH1 genes
• In adolescents, puberty may be delayed or absent
• Treatment involves growth hormone injections

(Source: Growth Hormone Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Growth Hormone Deficiency Disorder? (Age and Sex Distribution)

• Growth Hormone Deficiency Disorder can be observed in both children and adults; however, a large number of cases are diagnosed in children
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Growth Hormone Deficiency Disorder? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Growth Hormone Deficiency Disorder

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 Growth Hormone Deficiency Disorder? (Etiology)

• Most of the time, no single clear cause of Growth Hormone Deficiency Disorder can be identified. It can be congenital (present at birth) or acquired
• But, several genetic causes of GHD Disorder have been described, such as mutations in the POU1F1/Pit1, PROP1 GHRH and GH1 genes

(Source: Growth Hormone Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Growth Hormone Deficiency Disorder?

• Growth Hormone Deficiency (GHD) Disorder is characterized by abnormally short height due to lack (or shortage) of growth hormone
• Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults
• In adolescents, puberty may be delayed or absent

(Source: Growth Hormone Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Growth Hormone Deficiency Disorder Diagnosed?

Growth Hormone Deficiency Disorder 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

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 Growth Hormone Deficiency Disorder?

The complications of Growth Hormone Deficiency Disorder may include:

• Frequent fractures in adults
• Absence of puberty in children

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

How is Growth Hormone Deficiency Disorder Treated?

• The treatment of Growth Hormone Deficiency Disorder involves growth hormone injections

(Source: Growth Hormone Deficiency Disorder; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Growth Hormone Deficiency Disorder be Prevented?

Currently, Growth Hormone Deficiency Disorder may not be preventable, in some cases.

What is the Prognosis of Growth Hormone Deficiency Disorder? (Outcomes/Resolutions) 

• The prognosis of Growth Hormone Deficiency is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Growth Hormone Deficiency Disorder:

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

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