Deafness hypogonadism syndrome

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

It has been described in five related males.

Cause

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

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)

NIH genetic and rare disease info

• NIH info on Deafness hypogonadism syndrome

Deafness hypogonadism syndrome is a rare disease.

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