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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
  • ICD-11: LD2A.Y
  • OMIM: 273250
  • UMLS: C0266427
  • MeSH: C537770
  • GARD: -
  • MedDRA: 10002641

  A summary on this disease is available in Español (2014) Nederlands (2014) Deutsch (2004) Français (2005) Italiano (2005)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.