ORPHA:393
46,XX testicular difference of sex development
Synonyms: 46,XX testicular DSD · 46,XX testicular disorder of sex development · De la Chapelle syndrome · XX, male syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Antenatal, Neonatal
- Status
- active
A rare difference of sex development (DSD) associated with a 46, XX karyotype and characterized by male external genitalia, ranging from normal to atypical with associated testosterone deficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XX testicular difference of sex development | 46,XX testicular DSD · 46,XX testicular disorder of sex development · De la Chapelle syndrome · XX, male syndrome |
| fr | Différence testiculaire du développement sexuel 46,XX | Syndrome de De la Chapelle · Syndrome du mâle XX · Anomalie testiculaire du développement sexuel 46,XX |
| de | 46,XX testikuläre Störung der Geschlechtsentwicklung | 46,XX testikuläres DSD · De la Chapelle-Syndrom |
| es | Desarrollo sexual diferente testicular 46,XX | DSD testicular 46,XX · Síndrome de De la Chapelle · Síndrome del varón XX · Trastorno del desarrollo sexual testicular 46,XX |
| it | Malattia testicolare dello sviluppo sessuale 46,XX | Sindrome di De la Chapelle |
| nl | 46,XX testiculaire geslachtsontwikkelingsstoornis | 46,XX testiculaire DSD · Syndroom van De la Chapelle · XX, mannelijk syndroom |
| pt | Doença do desenvolvimento sexual 46,XX testicular | Síndrome De la Chapelle |
| pl | Jądrowe zaburzenie rozwoju płci z kariotypem 46,XX | XX, mężczyzna · Zespół De la Chapelle |
| cs | 46,XX testikulární porucha pohlavního zrání | 46,XX testikulární DSD · XX, mužský syndrom · De la Chapellův syndrom |
| uk | 46,XX тестікулярне порушення статевої диференціації | 46,XX порушення статевого розвитку яєчок · 46,XX DSD яєчка · Синдром де ла Шапель · XX, чоловічий синдром |
| zh | 46, XX性发育相关睾丸疾病 | De la Chapelle综合征 |
| tr | 46,XX testiküler cinsiyet gelişim bozukluğu | XX, erkek sendromu · 46, XX testiküler DSD · De la Chapelle sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278850 | BTNT | validated | |
| OMIM | 300833 | BTNT | validated | |
| OMIM | 400045 | E | validated | |
| ICD-10 | Q99.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.Y | NTBT | index | validated |
| MONDO | 0100249 | E | validated | |
| MeSH | D058531 | E | validated | |
| UMLS | C2936419 | E | validated | |
| GARD | 399 | E | validated | |
| MedDRA | 10087158 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:32505546,XX 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 - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 21183788[PMID]_22678921[PMID] |
| NR5A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7983 | ENSG00000136931 | 184757 | 9q33.3 | nuclear receptor subfamily 5 group A member 1 | 27490115[PMID] |
| SOX9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11204 | ENSG00000125398 | 608160 | 17q24.3 | SRY-box transcription factor 9 | 24140641[PMID] |
| SRY | Disease-causing germline mutation(s) in | Assessed | HGNC:11311 | ENSG00000184895 | 480000 | Yp11.2 | sex determining region Y | 20301589[PMID] |
| NR0B1 | Role in the phenotype of | Assessed | HGNC:7960 | ENSG00000169297 | 300473 | Xp21.2 | nuclear receptor subfamily 0 group B member 1 | 28483799[PMID] |
5
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 | 16200839[PMID]_6945286[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000026 | Male hypogonadism | |
| HP:0000147 | Polycystic ovaries | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/393
- This record as JSON: /data/d/393.json