Deafness hypogonadism syndrome

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]

It has been described in five related males.

Cause[edit]

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]

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

Abnormal spermatogenesis
Abnormality of the internal auditory canal
Delayed puberty(Delayed pubertal development)
Delayed skeletal maturation(Delayed bone maturation)
Enlarged cochlear aqueduct
Hypergonadotropic hypogonadism
Progressive sensorineural hearing impairment
Severe conductive hearing impairment
Stapes ankylosis

30%-79% of people have these symptoms

Behavioral abnormality(Behavioral changes)

5%-29% of people have these symptoms

Cognitive impairment (Abnormality of cognition)
Congenital stationary night blindness (Night blindness since birth)
Epicanthus(Eye folds)
Heterochromia iridis(Different colored eyes)
Hypertelorism(Wide-set eyes)
Low levels of vitamin B1(Vitamin B1 deficiency)

Diagnosis[edit]

Treatment[edit]

NIH genetic and rare disease info[edit]

NIH info on Deafness hypogonadism syndrome

Deafness hypogonadism syndrome is a rare disease.

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