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

• Deafness-Goiter-Stippled Epiphyses

What is Deafness Goiter Stippled Epiphyses? (Definition/Background Information)

• Deafness Goiter Stippled Epiphyses is a congenital metabolic disorder, where despite sufficient levels of thyroid hormone being present in the individual, his/her body does not respond to the hormone. The disorder is mainly characterized by hearing loss
• The symptoms include hypothyroidism, deafness, goiter, elevated levels of protein-bound iodine, and bone abnormalities, known as stippled epiphyses (bones with spots/specks)

Who gets Deafness Goiter Stippled Epiphyses? (Age and Sex Distribution)

• Deafness Goiter Stippled Epiphyses is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Deafness Goiter Stippled Epiphyses? (Predisposing Factors)

• A positive family history can be an important risk factor, since Deafness Goiter Stippled Epiphyses may be inherited
• Being a child of parents who are close blood relatives (such as first cousins) may be a risk factor as well

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 Deafness Goiter Stippled Epiphyses? (Etiology)

The exact underlying cause of Deafness Goiter Stippled Epiphyses is currently unknown.

What are the Signs and Symptoms of Deafness Goiter Stippled Epiphyses?

The signs and symptoms of Deafness Goiter Stippled Epiphyses may include:

• Hypothyroidism leading to the following:
• Lethargy
• Hair loss
• Enlarged neck 
• Weight gain 
• Constipation 
• Cold intolerance
• Menstrual abnormalities in women
• Hearing loss
• Goiter (enlargement of thyroid gland)
• Bone anomaly (stippled epiphyses), where multiple calcified spots may form
• Elevated levels of protein bound iodine

How is Deafness Goiter Stippled Epiphyses Diagnosed?

Deafness Goiter Stippled Epiphyses 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 Deafness Goiter Stippled Epiphyses?

The complications of Deafness Goiter Stippled Epiphyses may include:

• Hormonal imbalances
• Loss of consciousness with use of medications such as sedatives

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

How is Deafness Goiter Stippled Epiphyses Treated?

There is no cure for Deafness Goiter Stippled Epiphyses, since it may have a genetic basis. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Deafness Goiter Stippled Epiphyses be Prevented?

At the present time, no guidelines or methods exist for the prevention of Deafness Goiter Stippled Epiphyses.

• 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 Deafness Goiter Stippled Epiphyses? (Outcomes/Resolutions) 

• The prognosis of Deafness Goiter Stippled Epiphyses 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 Deafness Goiter Stippled Epiphyses:

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

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