Deafness hypogonadism syndrome

From WikiMD's Wellness Encyclopedia

Hearing impaired/loss
Hearing impaired/loss

This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; ), hypogonadism and abnormal behavior.

Epidemiology[edit | edit source]

It has been described in five related males.

Cause[edit | edit source]

Inheritance appeared to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness - hypogonadism is a contiguous gene deletion syndrome.

Signs and symptoms[edit | edit source]

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Behavioral abnormality(Behavioral changes)

5%-29% of people have these symptoms

Diagnosis[edit | edit source]

Treatment[edit | edit source]

NIH genetic and rare disease info[edit source]

Deafness hypogonadism syndrome is a rare disease.



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