Testicular regression syndrome

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Testicular 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

These 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

DHX37Disease-causing germline mutation(s)

ICD-10 codes

Q55.0ICD-10 names this disease exactly — shared with 1 other rare disease

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

MONDO 8000015OMIM 273250UMLS C0266427

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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