OrphanDrug
OrphanDrug
Pharma Knowledge Base

deafness-hypogonadism syndrome

MeSH: C564435ORPHA: 90646

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with deafness-hypogonadism syndrome, sourced from HPO and Orphanet clinical annotations.

EpicanthusHypertelorismStapes ankylosisConductive hearing impairmentProgressive sensorineural hearing impairmentAtypical behaviorHypergonadotropic hypogonadismDelayed pubertyDelayed skeletal maturationHeterochromia iridisAbnormality of the middle ear ossiclesDecreased circulating vitamin B1 concentrationCognitive impairmentEarly-onset non-progressive night blindnessAbnormal spermatogenesisAbnormality of the internal auditory canalEnlarged cochlear aqueductSevere conductive hearing impairment

Classification & Codes

MeSH Code

C564435

Orphanet Code

ORPHA:90646
deafness-hypogonadism syndrome
MeSHC564435
OrphanetORPHA:90646
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO