Testicular regression syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ANORCHIA, FAMILIAL XY GONADAL AGENESIS SYNDROME TESTICULAR REGRESSION, EMBRYONIC TRS ETRS XY gonadal agenesis Vanishing testis syndrome Vanishing testes syndrome Embryonic testicular regression syndrome |
| Number of Symptoms | 13 |
| OrphanetNr: | 983 |
| OMIM Id: |
273250
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| ICD-10: |
Q55.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XY disorder of gonadal development
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000022) | Abnormality of male internal genitalia | Very frequent [Orphanet] | 5 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
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(HPO:0000037) | Male pseudohermaphroditism | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000812) | Abnormal internal genitalia | 5 / 7739 | ||||
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000271) | Abnormality of the face | Occasional [Orphanet] | 108 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(OMIM) | 46,XY chromosomes | 2 / 7739 | ||||
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(HPO:0012870) | Vanishing testis | 1 / 7739 | ||||
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(OMIM) | Absent gonads | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and ... |
| Clinical Description OMIM |
Abeyaratne et al. (1969) described 16 cases of apparently complete absence of testes in phenotypic males, including one pair of affected sibs. Ferrier (1969) examined twins, one of whom had anorchia, who were found through blood studies to ... |