46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Synonyms: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure |
| fr | Différence du développement sexuel 46,XY-insuffisance surrénalienne par déficit en CYP11A1 | Anomalie du développement sexuel 46,XY-insuffisance surrénalienne par déficit en CYP11A1 |
| de | Störung der Geschlechtsentwicklung 46,XY - Nebenniereninsuffizienz, durch CYP11A1-Mangel | XY-Geschlechtsumkehr - Nebennierenversagen |
| es | Desarrollo sexual diferente 46,XY-insuficiencia suprarrenal por deficiencia de CYP11A1 | Cambio de sexo XY-insuficiencia suprarrenal · DSD 46,XY-insuficiencia suprarrenal por deficiencia de CYP11A1 · Inversión sexual XY-insuficiencia suprarrenal · Trastorno del desarrollo sexual 46,XY-insuficiencia suprarrenal por deficiencia de CYP11A1 |
| it | Disturbo dello sviluppo sessuale 46,XY - insufficienza surrenalica da deficit di CYP11A1 | Reversione sessuale XY - insufficienza surrenalica |
| nl | 46,XY-geslachtsontwikkelingsstoornis - adrenale insufficiëntie door CYP11A1-deficiëntie | 46,XY-geslachtsontwikkelingsstoornis - bijnierinsufficiëntie door CYP11A1-deficiëntie · XY-geslachtsomkering - bijnierfalen |
| pt | Doença do desenvolvimento sexual 46,XY-insuficiência supra-renal por deficiência de CYP11A1 | Inversão sexual XY-insuficiência supra-renal |
| pl | Zaburzenie różnicowania płci o kariotypie 46,XY - niewydolność nadnerczy z powodu deficytu CYP11A1 | Odwrócenie płci XY - niewydolność nadnerczy |
| cs | Syndrom zahrnující 46,XY poruchu pohlavního vývoje a nedostatečnost nadledvin způsobenou deficitem CYP11A1 | Syndrom zahrnující XY zvrat pohlaví a selhání nadledvin |
| uk | 46,XY порушення статевої диференціації-недостатності надниркових залоз внаслідок дефіциту CYP11A1 | 46,XY порушення статевого розвитку - недостатність надниркових залоз внаслідок дефіциту CYP11A1 · XY реверсія статі - надниркова недостатність |
| zh | 46，XY性发育障碍伴 - CYP11A1缺乏所致肾上腺功能不全 | XY性逆转-肾上腺衰竭 |
| tr | CYP11A1 eksikliğine bağlı 46,XY cinsiyet gelişim bozukluğu-adrenal yetersizlik | XY cinsiyet değişimi-adrenal yetmezlik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613743 | NTBT | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| MONDO | 0013400 | E | validated | |
| UMLS | C5190811 | 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 (2):
- ORPHA:9078646,XY difference of sex development due to adrenal and 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:101960Genetic chronic primary adrenal insufficiency
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP11A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2590 | ENSG00000140459 | 118485 | 15q24.1 | cytochrome P450 family 11 subfamily A member 1 | 18182448[PMID]_15507506[PMID]_11502818[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 21880796[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21880796[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
51 annotations · validated 2015-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012244 | Abnormal sex determination | |
| HP:0012598 | Abnormal urine potassium concentration | |
| HP:0003107 | Abnormality of cholesterol metabolism | |
| HP:0001197 | Abnormality of prenatal development or birth | |
| HP:0010789 | Abnormality of the Leydig cells | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0001941 | Acidosis | |
| HP:0011749 | Adrenocorticotropic hormone excess | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0000028 | Cryptorchidism | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0030349 | Decreased circulating androgen level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0000144 | Decreased fertility | |
| HP:0008734 | Decreased testicular size | |
| HP:0001944 | Dehydration | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0007574 | Generalized bronze hyperpigmentation | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000771 | Gynecomastia | |
| HP:0002153 | Hyperkalemia | |
| HP:0012605 | Hypernatriuria | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0011106 | Hypovolemia | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0000848 | Increased circulating renin level | |
| HP:0030369 | Induced vaginal delivery | |
| HP:0008073 | Low maternal serum estriol | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000939 | Osteoporosis | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000127 | Renal salt wasting | |
| HP:0012245 | Sex reversal | |
| HP:0100779 | Urogenital sinus anomaly | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0000142 | Abnormality of the vagina | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0012854 | Midshaft hypospadias | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21159840[PMID]_19116240[PMID]_16705068[PMID]_18182448[PMID]_11502818[PMID]_12161514[PMID]_15507506[PMID]_16044444[PMID]_22909024[PMID]_15180858[PMID]_14172080[PMID]_3706293[PMID]_11972529[PMID]_9207791[PMID]_22909024[PMID]_12136908[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168558
- This record as JSON: /data/d/168558.json