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Anorchia [Supplementary Concept]

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

Date introduced: November 13, 2010

MeSH Unique ID: C537770

Heading Mapped to:

Entry Terms:

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

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