ORPHA:752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Synonyms: 17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency · 17-ketosteroidreductase deficiency · 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Neonatal
- Status
- active
A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency · 17-ketosteroidreductase deficiency · 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
| fr | Différence du développement sexuel 46,XY par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 | Anomalie du développement sexuel 46,XY par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 · Déficit en 17-bêta-hydroxystéroïde déshydrogénase type 3 · Déficit en 17-cétoréductase · Déficit en 17-cétostéroïde réductase |
| de | Störung der Geschlechtsentwicklung 46,XY, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel | 17-Keto-Reduktase-Mangel · 17-Ketosteroid-Reduktase-Mangel · 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel · Pseudohermaphroditismus, männlicher, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel |
| es | Desarrollo sexual diferente 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa | DSD 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa · Trastorno del desarrollo sexual 46,XY por deficiencia de 17-beta-hidroxiesteroide deshidrogenasa |
| it | Disturbi dello sviluppo sessuale 46,XY da deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 | Deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 · Deficit di 17-cheto reduttasi · Deficit di 17-cheto-steroido reduttasi · Pseudoermafroditismo maschile da deficit di 17 beta-idrossisteroido deidrogenasi, tipo 3 |
| nl | 46,XY-geslachtsontwikkelingsstoornis door deficiëntie van 17-bèta-hydroxysteroïde-dehydrogenase 3 | Deficiëntie van 17-bèta-hydroxysteroïde-dehydrogenase 3 · Deficiëntie van 17-ketoreductase · Deficiëntie van 17-ketosteroïdreductase |
| pt | Doença do desenvolvimento sexual 46,XY por deficiência de 17-beta-hidroxiesteróide desidrogenase | Pseudo-hermafroditismo masculino por deficiência de 17-beta-hidroxiesteróide desidrogenase |
| pl | Zaburzenie rozwoju płci z kariotypem 46,XY spowodowane niedoborem dehydrogenazy 17-beta-hydroksysteroidowej typu 3 | Niedobór 17-ketoreduktazy · Niedobór 17-ketosteroidoreduktazy · Niedobór dehydrogenazy 17-beta-hydroksysteroidowej typu 3 · Pseudohermafrodytyzm męski spowodowany niedoborem dehydrogenazy 17-beta-hydroksysteroidowej typu 3 |
| cs | 46,XY porucha pohlavního vývoje způsobená deficitem 17-beta-hydroxysteroid dehydrogenázy 3 | Deficit 17-beta-hydroxysteroid dehydrogenázy typu 3 · Deficit 17-ketoreduktázy · Deficit 17-ketosteroidreduktázy · Mužský pseudohermafroditismus způsobený deficitem 17-beta-hydroxysteroid dehydrogenázy 3 |
| uk | 46,XY порушення статевої диференціації, зумовлене дефіцитом 17-бета-гідроксистероїддегідрогенази 3 | Дефіцит 17-бета-гідроксистероїдної дегідрогенази 3 · Дефіцит 17-кеторедуктази · Дефіцит 17-кетостероїдредуктази · 46,XY порушення статевої диференціації внаслідок дефіциту 17-бета-гідроксистероїддегідрогенази 3 |
| zh | 17-β-羟基类固醇脱氢酶3缺乏所致男性假两性畸形 | 17-β-羟类固醇脱氢酶3缺乏症 |
| tr | 17-beta-hidroksisteroid dehidrojenaz 3 eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu | 17-ketoredüktaz eksikliği · 17-ketosteroidredüktaz eksikliği · 17-beta-hidroksisteroid dehidrojenaz 3 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264300 | E | validated | |
| ICD-10 | E29.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.3 | NTBT | index | validated |
| MONDO | 0009916 | E | validated | |
| MeSH | C537805 | E | validated | |
| UMLS | C0268296 | E | validated | |
| GARD | 5659 | 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 (4):
- ORPHA:9078746,XY difference of sex development due to testicular steroidogenesis defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases; rare transplant-related disorders - ORPHA:400018Rare female infertility due to adrenal disorder of genetic origin
rare genetic diseases - ORPHA:399849Rare female infertility due to an adrenal disorder
rare infertility disorders - ORPHA:399685Rare male infertility due to testicular endocrine disorder
rare genetic diseases; rare infertility disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD17B3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5212 | ENSG00000130948 | 605573 | 9q22.32 | hydroxysteroid 17-beta dehydrogenase 3 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.68 / 100 000 | Netherlands | Value and class | Validated | 10599740[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.68 / 100 000 | Netherlands | Value and class | 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.
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HPO phenotypes
12 annotations · validated 2025-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000047 | Hypospadias | |
| HP:0000789 | Infertility | |
| HP:0000037 | Male pseudohermaphroditism | |
| Frequent (79-30%) | ||
| HP:0025380 | Increased circulating androstenedione concentration | |
| HP:0000023 | Inguinal hernia | |
| HP:0100779 | Urogenital sinus anomaly | |
| Occasional (29-5%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0000771 | Gynecomastia | |
| HP:0008736 | Hypoplasia of penis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 36154887[PMID]_25960839[PMID]_36077423[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/752
- This record as JSON: /data/d/752.json