ORPHA:90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Synonyms: CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency |
| fr | Hyperplasie congénitale des surrénales par déficit en 17-alpha-hydroxylase | Déficit combiné en 17-hydroxylase/17,20-lyase · HCS par déficit en 17-alpha-hydroxylase |
| de | Nebennierenhyperplasie, kongenitale, durch 17-alpha-Hydroxylase-Mangel | CAH durch 17-alpha-Hydroxylase-Mangel · Kombinierter 17-Hydroxylase/17,20-Lyase-Mangel · Kongenitale adrenale Hyperplasie durch 17-alpha-Hydroxylase-Mangel |
| es | Hiperplasia suprarrenal congénita por deficiencia de 17-alfa-hidroxilasa | CAH por deficiencia de 17-alfa-hidroxilasa · Deficiencia combinada 17-hidroxilasa/17,20-liasa |
| it | Iperplasia congenita del surrene da deficit di 17-alfa-idrossilasi | CAH da deficit di 17-alfa-idrossilasi · Deficit combinato di 17-idrossilasi/17,20-liasi |
| nl | Congenitale adrenale hyperplasie door deficiëntie van 17-alfa-hydroxylase | CAH door deficiëntie van 17-alfa-hydroxylase · Congenitale bijnierhyperplasie door deficiëntie van 17-alfa-hydroxylase · Gecombineerde deficiëntie van 17-hydroxylase/17,20-lyase |
| pt | Hiperplasia supra-renal congénita por deficiência de 17-alfa-hidroxilase | CAH por deficiência de 17-alfa-hidroxilase · Deficiência combinada de 17-hidroxilase/17,20-liase |
| pl | Wrodzony przerost nadnerczy spowodowany niedoborem 17-alfa-hydroksylazy | CAH spowodowany niedoborem 17-alfa-hydroksylazy · Złożony Niedobór 17-hydroksylazy/17,20-liazy |
| cs | Vrozená adrenální hyperplázie způsobená deficitem 17-alfa-hydroxylázy | Kombinovaný deficit 17-hydroxylázy/17,20-lyázy |
| uk | Вроджена гіперплазія надниркових залоз внаслідок дефіциту 17-альфа-гідроксилази | АГС внаслідок дефіциту 17-альфа-гідроксилази · Поєднаний дефіцит 17-гідроксилази/17,20-ліази |
| zh | 17α-羟化酶缺乏所致先天性肾上腺皮质增生症 | 17-羟化酶/17,20-裂解酶联合缺乏 |
| tr | 17-alfa-hidroksilaz eksikliğine bağlı doğumsal adrenal hiperplazi | 17-alfa-hidroksilaz eksikliğine bağlı CAH · Kombine 17-hidroksilaz / 17,20-liyaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202110 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0008730 | E | validated | |
| MeSH | C538237 | E | validated | |
| UMLS | C0268285 | E | validated | |
| GARD | 1469 | 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 (8):
- 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:418Congenital adrenal hyperplasia
rare genetic diseases; rare endocrine diseases - 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:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:399584Rare male infertility due to adrenal disorder
rare infertility disorders - ORPHA:399994Rare male infertility due to adrenal disorder of genetic origin
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP17A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2593 | ENSG00000148795 | 609300 | 10q24.32 | cytochrome P450 family 17 subfamily A member 1 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | 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
41 annotations · validated 2021-04-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031074 | Abnormal response to ACTH stimulation test | |
| HP:0500022 | Abnormal serum dehydroepiandrosterone level | |
| HP:0008258 | Congenital adrenal hyperplasia | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000822 | Hypertension | |
| HP:0032362 | Increased circulating corticosterone level | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0032330 | Increased urinary 11-deoxycorticosterone level | |
| Frequent (79-30%) | ||
| HP:0008197 | Absence of pubertal development | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0011749 | Adrenocorticotropic hormone excess | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0003351 | Decreased circulating renin concentration | |
| HP:0000144 | Decreased fertility | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0000771 | Gynecomastia | |
| HP:0002900 | Hypokalemia | |
| HP:0000047 | Hypospadias | |
| HP:0031216 | Increased circulating progesterone | |
| HP:0000858 | Irregular menstruation | |
| HP:0000026 | Male hypogonadism | |
| HP:0000138 | Ovarian cyst | |
| HP:0000786 | Primary amenorrhea | |
| Occasional (29-5%) | ||
| HP:0002221 | Absent axillary hair | |
| HP:0002555 | Absent pubic hair | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0000048 | Bifid scrotum | |
| HP:0040314 | Blind vagina | |
| HP:0001508 | Failure to thrive | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0003251 | Male infertility | |
| HP:0000054 | Micropenis | |
| HP:0003394 | Muscle spasm | |
| HP:0010465 | Precocious puberty in females | |
| HP:0008207 | Primary adrenal insufficiency | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20170344[PMID]_26862015[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90793
- This record as JSON: /data/d/90793.json