46,XY ovotesticular difference of sex development
Synonyms: 46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development
- Type
- Disease
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY ovotesticular difference of sex development | 46,XY ovotesticular DSD · 46,XY ovotesticular disorder of sex development |
| fr | Différence ovotesticulaire du développement sexuel 46,XY | ADS ovotesticulaire 46,XY · Anomalies ovotesticulaires du développement sexuel 46,XY · DSD 46,XY ovotesticulaire |
| de | Störung der Geschlechtsentwicklung 46,XY, ovotestikuläre | 46,XY-DSD, ovotestikuläre |
| es | Desarrollo sexual diferente 46,XY ovotesticular | DSD ovotesticular 46,XY · Trastorno ovotesticular del desarrollo sexual 46,XY |
| it | Malattia ovotesticolare 46,XY dello sviluppo sessuale | DSD ovotesticolare 46,XY |
| nl | 46,XY ovotesticulaire geslachtsontwikkelingsstoornis | 46,XY ovotesticulaire DSD |
| pt | Doença do desenvolvimento sexual 46,XY ovotesticular | |
| pl | Jajnikowo-jądrowe zaburzenie różnicowania płci z kariotypem 46,XY | Jajnikowo-jądrowe ZRP z kariotypem 46,XY |
| cs | 46,XY ovotestikulární porucha pohlavního vývoje | 46,XY ovotestikulární DSD |
| uk | 46,XY овотестикулярне порушення статевої диференціації | 46,XY овотестикулярний розлад статевого розвитку · 46,XY оваріально-тестикулярний ПСР |
| zh | 46，XY性发育障碍卵巢睾丸病 | 46，XY卵巢睾丸病DSD |
| tr | 46, XY ovotestiküler cinsiyet gelişim bozukluğu | Ovotestiküler DSD 46, XY |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q56.0 | NTBT | attributed | validated |
| ICD-11 | LD2A.0 | NTBT | specific | validated |
| MONDO | 0017968 | E | validated | |
| UMLS | C2697358 | 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 (3):
- ORPHA:32511846,XY disorder of gonadal development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:98074Gonadal dysgenesis of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related 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 | 1.3 / 100 000 | Worldwide | Value and class | Validated | 29285340[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
19 annotations · validated 2015-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012244 | Abnormal sex determination | |
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0000056 | Abnormality of the clitoris | |
| HP:0010460 | Abnormality of the female genitalia | |
| HP:0000058 | Abnormality of the labia | |
| HP:0010461 | Abnormality of the male genitalia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000048 | Bifid scrotum | |
| HP:0000063 | Fused labia minora | |
| HP:0000054 | Micropenis | |
| HP:0012861 | Ovotestis | |
| HP:0000051 | Perineal hypospadias | |
| HP:0010459 | True hermaphroditism | Pathognomonic sign |
| HP:0100779 | Urogenital sinus anomaly | |
| Frequent (79-30%) | ||
| HP:0000041 | Chordee | |
| HP:0000150 | Gonadoblastoma | |
| HP:0030258 | Hyperpigmented genitalia | |
| Occasional (29-5%) | ||
| HP:0000039 | Epispadias | |
| HP:0000023 | Inguinal hernia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24758178[PMID]_23065160[PMID]_16624884[PMID]_22573722[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/325345
- This record as JSON: /data/d/325345.json