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

• Growth Hormone Deficiency, Isolated, Autosomal Dominant
• IGHD II (Isolated Growth Hormone Deficiency Type 2)
• Pituitary Dwarfism due to Isolated Growth Hormone Deficiency, Autosomal Dominant

What is Isolated Growth Hormone Deficiency Type 2? (Definition/Background Information)

• Isolated Growth Hormone Deficiency Type 2 (IGHD II) is a genetic disorder in an autosomal dominant manner. It is a condition caused by a severe shortage or absence of growth hormone without other hormonal problems 
• Growth hormone is a protein necessary for normal growth of the bone and body tissues. Because people with this condition don't have enough of this hormone, they have short stature, which is noticeable from early childhood
• Treatment involves giving growth hormone to those who are affected

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

Who gets Isolated Growth Hormone Deficiency Type 2? (Age and Sex Distribution)

• Isolated Growth Hormone Deficiency Type 2 is a rare congenital disorder. Its exact prevalence is not known
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Isolated Growth Hormone Deficiency Type 2? (Predisposing Factors)

• A positive family history may be an important risk factor, since Isolated Growth Hormone Deficiency Type 2 can be inherited
• Currently, no other risk factors have been clearly identified for IGHD II

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 Isolated Growth Hormone Deficiency Type 2? (Etiology)

• Isolated Growth Hormone Deficiency Type 2 is caused by mutation(s) in the GH1 gene, which codes for growth hormone
• The disorder is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Isolated Growth Hormone Deficiency Type 2?

The signs and symptoms of Isolated Growth Hormone Deficiency Type 2 may include:

• Failure to achieve developmental milestones in with respect to height
• Short stature

How is Isolated Growth Hormone Deficiency Type 2 Diagnosed?

Isolated Growth Hormone Deficiency Type 2 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 Isolated Growth Hormone Deficiency Type 2?

The complications of Isolated Growth Hormone Deficiency Type 2 may include:

• Appearance shorter than peers leading to low self-esteem
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Isolated Growth Hormone Deficiency Type 2 Treated?

• Isolated Growth Hormone Deficiency Type 2 is treated with growth hormone supplementation in order to overcome the deficiency

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

How can Isolated Growth Hormone Deficiency Type 2 be Prevented?

Isolated Growth Hormone Deficiency Type 2 may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Isolated Growth Hormone Deficiency Type 2? (Outcomes/Resolutions)

• The prognosis of Isolated Growth Hormone Deficiency Type 2 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, growth hormone supplementation can help an individual overcome the hormone deficiency

Additional and Relevant Useful Information for Isolated Growth Hormone Deficiency Type 2:

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

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