Gonadal dysgenesis XX type deafness

A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic symptoms, such as mild intellectual disability and cerebellar and peripheral nervous system involvement. It is caused by mutations in the PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2 (HSD17B4) gene. OMIM: 233400

Also Known As:

17-beta-hydroxysteroid dehydrogenase 4, deficiency of; Ovarian dysgenesis with sensorineural deafness; Peroxisomal bifunctional enzyme complex deficiency; Peroxisomal bifunctional enzyme deficiency; Perrault syndrome

Otorhinolaryngologic Diseases: 204
- Ear Diseases: 267
  - Hearing Disorders: 329
    - Hearing Loss: 12667
      - Sensorineural Hearing Loss: 4083
        Gonadal dysgenesis XX type deafness: 21
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Sensation Disorders: 123
    - Hearing Disorders: 329
      - Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Gonadal dysgenesis XX type deafness: 21
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Sensation Disorders: 123
      - Hearing Disorders: 329
        Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Gonadal dysgenesis XX type deafness: 21
Urogenital Diseases: 129
- Urogenital Abnormalities: 77
  - Disorders of Sex Development: 740
    - Gonadal Dysgenesis: 521
      - 46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
    - XX Disorders of Sex Development 46: 77
      - 46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 77
      - Disorders of Sex Development: 740
        Gonadal Dysgenesis: 521
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
        XX Disorders of Sex Development 46: 77
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
- Male Urogenital Diseases
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - Gonadal Dysgenesis: 521
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
      - XX Disorders of Sex Development 46: 77
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Urogenital Abnormalities: 77
    - Disorders of Sex Development: 740
      - Gonadal Dysgenesis: 521
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
      - XX Disorders of Sex Development 46: 77
        46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Disorders of Sex Development: 740
    - Gonadal Dysgenesis: 521
      - 46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21
    - XX Disorders of Sex Development 46: 77
      - 46,XX Gonadal Dysgenesis: 7
        Gonadal dysgenesis XX type deafness: 21

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Drug/Important Bio-Agent (IBA)