Testicular regression syndrome
Synonyms: ETRS · Embryonic testicular regression syndrome · TRS · Vanishing testes syndrome · Vanishing testis syndrome · XY gonadal agenesis syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Testicular regression syndrome | ETRS · Embryonic testicular regression syndrome · TRS · Vanishing testes syndrome · Vanishing testis syndrome · XY gonadal agenesis syndrome |
| fr | Anorchidie congénitale isolée | Agénésie testiculaire XY · Syndrome de régression testiculaire · Syndrome du testicule évanescent · TRS |
| de | Testikuläres Regressionssyndrom | ETRS · Embryonales testikuläres Regressionssyndrom · Hodenagenesie, kongenitale · TRS · Vanishing-Testes-Syndrom · XY-Gonaden-Agenesie |
| es | Síndrome de regresión testicular | ETRS · Síndrome de testículos desvanecidos · Síndrome embrionario de regresión testicular · TRS |
| it | Sindrome da regressione testicolare | ETRS · Sindrome dei testicoli evanescenti · Sindrome embrionale da regressione testicolare · TRS |
| nl | Testiculaire regressie-syndroom | ETRS · Embryonale testiculaire regressie-syndroom · TRS · Verdwijnende testes-syndroom · Verdwijnende testis-syndroom · XY gonadale agenesie-syndroom |
| pt | Síndrome de regressão testicular | Agenesia gonadal XY · Anorquia · Ausência congénita de testículos · Síndrome de desaparecimento testicular |
| pl | Zespół regresji jąder | Embrionalny zespół regresji jąder · ETRS · TRS · Zespół zanikających jąder |
| cs | Syndrom testikulární regrese | ETRS · Syndrom embryonální testikulární regrese · TRS · Syndrom mizejících varlat |
| uk | Синдром регресії яєчок | Синдром ембріональної регресії яєчок · ETRS · TRS · Синдром зникнення яєчок · Синдром зниклого яєчка · Синдром XY-агенезії гонад |
| zh | 睾丸退化综合征 | 胚胎睾丸退化综合征 |
| tr | Testis regresyon sendromu | TRS · ETRS · Kaybolan testis sendromu · Kaybolan testis sendromu · XY gonadal agenez sendromu · Embriyonik testiküler regresyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273250 | E | validated | |
| ICD-10 | Q55.0 | E | specific | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 8000015 | E | validated | |
| UMLS | C0266427 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:32511846,XY disorder of gonadal development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:98313Male infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHX37 | Disease-causing germline mutation(s) in | Assessed | HGNC:17210 | ENSG00000150990 | 617362 | 12q24.31 | DEAH-box helicase 37 | 31287541[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000022 | Abnormality of male internal genitalia | |
| HP:0010469 | Absent testis | |
| HP:0008633 | Agonadism | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0010468 | Aplasia/Hypoplasia of the testes | |
| HP:0000144 | Decreased fertility | |
| HP:0008734 | Decreased testicular size | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000037 | Male pseudohermaphroditism | |
| Occasional (29-5%) | ||
| HP:0000271 | Abnormality of the face | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/983
- This record as JSON: /data/d/983.json