Anorchia

The absence of GONADS in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian duct rudiments (or both) are present. Virilizing effects due to early testicular tissue range from none or very slight external genital abnormalities in phenotypic females to the anorchic phenotypic male . Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common but breast development is absent. Nongenital anomalies may also be present. Inheritance appears to be autosomal recessive with sex limitation. OMIM: 273250

Also Known As:

Absence of testes; Anorchia, Familial; Congenital absence of testes; Empty scrotum; Testicular Regression, Embryonic; Testicular regression syndrome; Vanishing testes; XY gonadal dysgenesis syndrome; Xy Gonadal Agenesis Syndrome

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - 46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
    - 46,XY Disorder of Sex Development: 472
      - 46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
- 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
        Anorchia: 98
        46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - Gonadal Dysgenesis: 516
        46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
      - 46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
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
        Anorchia: 98
      - 46,XY Disorder of Sex Development: 472
        46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - Gonadal Dysgenesis: 516
      - 46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
    - 46,XY Disorder of Sex Development: 472
      - 46,XY Gonadal Dysgenesis: 91
        Anorchia: 98
Urogenital System
- Genitalia
  - Gonads
    - Testis
      - Anorchia: 98
  - Male Genitalia
    - Testis
      - Anorchia: 98
Endocrine System
- Endocrine Glands
  - Gonads
    - Testis
      - Anorchia: 98

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