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]
Deafness hypogonadism syndrome is a rare disease.
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Rare diseases - Deafness hypogonadism syndrome
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