ORPHA:753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Synonyms: 46,XY DSD due to 5-alpha-reductase 2 deficiency · 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias · Steroid 5-alpha-reductase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency | 46,XY DSD due to 5-alpha-reductase 2 deficiency · 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias · Steroid 5-alpha-reductase 2 deficiency |
| fr | Différence du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2 | ADS 46,XY par déficit en 5-alpha-réductase de type 2 · Anomalie du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2 · Déficit en stéroïde-5-alpha réductase de type 2 · Hypospadias périnéo-scrotale pseudovaginale |
| de | Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel | 46,XY DSD durch 5-Alpha-Reduktase 2-Mangel · Pseudovaginale perineoskrotale Hypospadie · Steroid-5-Alpha-Reduktase 2-Mangel |
| es | Desarrollo sexual diferente 46,XY por deficiencia de 5-alfa-reductasa 2 | DSD 46,XY por deficiencia de 5-alfa-reductasa 2 · Deficiencia de esteroide 5-alfa-reductasa · Hipospadias perineoescrotal pseudovaginal · Trastorno del desarrollo sexual 46,XY por deficiencia de 5-alfa-reductasa 2 |
| it | Alterato sviluppo sessuale 46,XY da deficit di 5-alfa-reduttasi 2 | DSD 46,XY da deficit di 5-alfa-reduttasi 2 · Deficit di steroido-5-alfa-reduttasi · Ipospadia pseudo-vaginale perineo-scrotale |
| nl | 46,XY-geslachtsontwikkelingsstoornis door deficiëntie van 5-alfa-reductase 2 | 46,XY-DSD door 5-alfa-reductase 2-deficiëntie · Deficiëntie van steroïde 5-alfa-reductase · Pseudovaginale perineoscrotale hypospadie |
| pt | Doença do desenvolvimento sexual 46,XY por deficiência de 5-alfa-redutase 2 | DDS 46,XY por deficiência de 5-alfa-redutase 2 · Hipospadias perineo-escrotal pseudo-vaginal |
| pl | Zaburzenie różnicowania płci spowodowane niedoborem 5-alfa-reduktazy 2 | Niedobór 5-alfa-reduktazy steroidowej · Pseudohermafrodytyzm męski spowodowany niedoborem 5-alfa-reduktazy 2 · ZRP 46,XY spowodowane niedoborem 5-alfa-reduktazy 2 |
| cs | 46,XY porucha pohlavního vývoje způsobená deficitem 5-alfa-reduktázy 2 | 46, XY DSD, deficit 5-alfa reduktázy · Pseudovaginální perineoskrotální hypospadie · Deficit steroid 5-alfa-reduktázy · Mužský pseudohermafroditismus způsobený deficitem 5-alfa-reduktázy 2 |
| uk | 46,XY порушення статевої диференціації, зумовлене дефіцитом 5-альфа-редуктази 2 | 46,XY порушення статевого розвитку внаслідок дефіциту 5-альфа-редуктази 2 · 46,XY ПСР внаслідок дефіциту 5-альфа-редуктази 2 · Псевдовагінальні перинеосакральні гіпоспадії · Дефіцит стероїдної 5-альфа-редуктази 2 |
| zh | 5-α还原酶2缺乏所致男性假两性畸形 | 5-α-还原酶缺乏所致46，XY男性假两性畸形 |
| tr | 5-alfa-redüktaz 2 eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu | Steroid 5-alfa redüktaz eksikliği · Psödovajinal perineoskrotal hipospadiyas · 5-alfa-redüktaz 2 eksikliğine bağlı 46,XY DSD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264600 | E | validated | |
| ICD-10 | E29.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.3 | NTBT | index | validated |
| MONDO | 0009923 | E | validated | |
| MeSH | C535830 | E | validated | |
| UMLS | C0268297 | E | validated | |
| GARD | 5680 | E | validated | |
| MedDRA | 10000029 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:9808646,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:399685Rare male infertility due to testicular endocrine disorder
rare genetic diseases; rare infertility disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRD5A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11285 | ENSG00000277893 | 607306 | 2p23.1 | steroid 5 alpha-reductase 2 | 8723114[PMID]_9497950[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0000048 | Bifid scrotum | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000051 | Perineal hypospadias | |
| HP:0000046 | Small scrotum | |
| HP:0100779 | Urogenital sinus anomaly | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/753
- This record as JSON: /data/d/753.json