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Start free with EleplanDeafness-hypogonadism syndrome
ORPHA:90646Malformation syndrome
Also called Hearing loss-hypogonadism syndrome
What it is
A rare syndromic genetic deafness characterized by progressive X-linked mixed deafness with with perilymphatic gusher, hypogonadism and abnormal behavior (including antisocial and immature behaviors). Partial heterochromia iridis may also be present in some patients. There have been no further descriptions in the literature since 1992.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
11- Abnormality of the internal auditory canal
- Abnormality of the middle ear ossicles
- Abnormal spermatogenesis
- Conductive hearing impairment
- Delayed puberty
- Delayed skeletal maturation
- Enlarged cochlear aqueduct
- Hypergonadotropic hypogonadism
- Progressive sensorineural hearing impairment
- Severe conductive hearing impairment
- Stapes ankylosis
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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