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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)
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