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Start free with EleplanTesticular regression syndrome
ORPHA:983Morphological anomaly
Also called ETRS · Embryonic testicular regression syndrome · TRS · Vanishing testes syndrome · Vanishing testis syndrome · XY gonadal agenesis syndrome
What it is
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.
Key facts
- Age of onset
- Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Morphological anomaly
Signs and symptoms
Very common80–99%
10These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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