Testicular agenesis
Synonyms: Bilateral anorchia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare 46,XY disorder of gonadal development characterized by congenital complete absence of testicular tissue in an individual with an otherwise normal male phenotype and normal karyotype. In addition, a small penis is a frequent finding in anorchid patients. Typical hormonal characteristics are elevated basal levels of gonadotropins (especially FSH), low concentration of testosterone, and lack of increase of plasma testosterone in response to hCG administration. The GnRH stimulation test induces a prolonged increase in FSH and LH levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Testicular agenesis | Bilateral anorchia |
| fr | Agénésie testiculaire | Anorchidie bilatérale |
| de | Testikuläre Agenesie | Anorchie, bilaterale |
| es | Agenesia testicular | Anorquidia bilateral |
| it | Agenesia testicolare | Anorchia bilaterale |
| nl | Testiculaire agenesie | Agenesie van testis · Bilaterale anorchie |
| pt | Agenesia testicular | |
| pl | Agnezja jader | Anorchia obustronna |
| cs | Testikulární ageneze | Úplná anorchie |
| uk | Агенезія яєчок | Двостороння анорхія |
| zh | 睾丸发育不全 | 双侧无睾症 |
| tr | Testis agenezisi | Bilateral anorşi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q55.0 | NTBT | attributed | validated |
| ICD-11 | LD2A.2 | E | specific | validated |
| MONDO | 0017967 | E | validated | |
| MeSH | C537770 | E | validated | |
| UMLS | C1261504 | E | validated | |
| GARD | 5819 | E | validated | |
| MedDRA | 10002641 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Validated | 21853106[PMID]_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 2016-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012872 | Abnormal vas deferens morphology | |
| HP:0000042 | Absent external genitalia | |
| HP:0010469 | Absent testis | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000054 | Micropenis | |
| HP:0012870 | Vanishing testis | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0008716 | Urethrovaginal fistula | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 9154766[PMID]_17183475[PMID]_15579790[PMID]_25905302[PMID]_4186283[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/325124
- This record as JSON: /data/d/325124.json