46,XY difference of sex development due to isolated 17,20-lyase deficiency
Synonyms: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare difference of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by female or atypical external genitalia with reduced phallic size, hypospadias, incomplete fusion of the labioscrotal swellings, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development due to isolated 17,20-lyase deficiency | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency |
| fr | Différence du développement sexuel 46,XY par déficit isolé en 17,20-lyase | Anomalie du développement sexuel 46,XY par déficit isolé en 17,20-lyase |
| de | Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17,20-Lyase-Mangel | |
| es | Desarrollo sexual diferente 46,XY por deficiencia aislada de 17,20-liasa | DSD 46,XY por deficiencia aislada de 17,20-liasa · Trastorno del desarrollo sexual 46,XY por deficiencia aislada de 17,20-liasa |
| it | Disturbo dello sviluppo sessuale da deficit isolato di 17,20-liasi con cariotipo 46,XY | |
| nl | 46,XY-geslachtsontwikkelingsstoornis door geïsoleerde deficiëntie van 17,20-lyase | |
| pt | Doença do desenvolvimento sexual 46,XY por deficiência de 17,20-liase isolada | |
| pl | Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane izolowanym niedoborem 17, 20-liazy | = en |
| cs | 46,XY porucha pohlavního vývoje způsobená izolovaným deficitem 17,20-lyázy | = en |
| uk | 46,XY порушення статевої диференціації внаслідок ізольованого дефіциту 17,20-ліази | 46,XY порушення статевого розвитку внаслідок ізольованого дефіциту 17,20-ліази |
| zh | 孤立型17，20-裂解酶缺乏男性假两性畸形 | |
| tr | İzole 17,20-liyaz eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202110 | NTBT | validated | |
| ICD-10 | E29.1 | NTBT | attributed | validated |
| ICD-11 | LD2A.3 | NTBT | index | validated |
| MONDO | 0019597 | E | validated | |
| UMLS | C5681470 | 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 (1):
- 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
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYB5A | Disease-causing germline mutation(s) in | Assessed | HGNC:2570 | ENSG00000166347 | 613218 | 18q22.3 | cytochrome b5 type A | 20080843[PMID] |
| CYP17A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2593 | ENSG00000148795 | 609300 | 10q24.32 | cytochrome P450 family 17 subfamily A member 1 | 12466376[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 22170710[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22170710[PMID] |
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
36 annotations · validated 2015-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012112 | Abnormality of circulating corticosterone level | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0030349 | Decreased circulating androgen level | |
| HP:0000144 | Decreased fertility | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0100607 | Dysmenorrhea | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000047 | Hypospadias | |
| HP:0000054 | Micropenis | |
| HP:0000939 | Osteoporosis | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000786 | Primary amenorrhea | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002231 | Sparse body hair | |
| HP:0002225 | Sparse pubic hair | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000868 | Decreased fertility in females | |
| HP:0012041 | Decreased fertility in males | |
| HP:0008734 | Decreased testicular size | |
| HP:0008726 | Hypoplasia of the vagina | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0012244 | Abnormal sex determination | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0001508 | Failure to thrive | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0000771 | Gynecomastia | |
| HP:0000037 | Male pseudohermaphroditism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 4288776[PMID]_2026124[PMID]_15866602[PMID]_4352099[PMID]_24793988[PMID]_9326943[PMID]_14504283[PMID]_999330[PMID]_8070426[PMID]_14747197[PMID]_11549685[PMID]_7045152[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90796
- This record as JSON: /data/d/90796.json