46,XY Gonadal Dysgenesis

Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.

Also Known As:

Swyer Syndrome; Syndrome, Swyer; Gonadal Dysgenesis, 46,XY; 46, XY Gonadal Dysgenesis; 46, XY Gonadal Sex Reversal; 46,XY Complete Gonadal Dysgenesis; Complete Gonadal Dysgenesis, 46, XY; Gonadal Dysgenesis, 46, XY; Pure Gonadal Dysgenesis 46,XY; Pure Gonadal Dysgenesis, 46, XY; Sex Reversal, Gonadal, 46, XY; XY Pure Gonadal Dysgenesis

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - 46,XY Gonadal Dysgenesis: 91
    - 46,XY Disorder of Sex Development: 472
      - 46,XY Gonadal Dysgenesis: 91
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        Gonadal Dysgenesis: 516
        46,XY Gonadal Dysgenesis: 91
        46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Gonadal Dysgenesis: 516
        46,XY Gonadal Dysgenesis: 91
      - 46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Gonadal Dysgenesis: 516
        46,XY Gonadal Dysgenesis: 91
      - 46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - 46,XY Gonadal Dysgenesis: 91
    - 46,XY Disorder of Sex Development: 472
      - 46,XY Gonadal Dysgenesis: 91

G D Berkovitz Selected Research

G D Berkovitz Research Topics

Disease

Drug/Important Bio-Agent (IBA)