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Testicular regression syndrome

Disease definition

Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.

ORPHA:983

Classification level: Disorder
  • Synonym(s):
    • ETRS
    • Embryonic testicular regression syndrome
    • TRS
    • Vanishing testes syndrome
    • Vanishing testis syndrome
    • XY gonadal agenesis syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q55.0
  • OMIM: 273250
  • UMLS: C0266427  C0405582  C1261504
  • MeSH: C537770
  • GARD: -
  • MedDRA: 10002641
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