ORPHA:90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Synonyms: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency |
| fr | Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase | HCS par déficit en 3-bêta-hydroxystéroïde déshydrogénase |
| de | Nebennierenhyperplasie, kongenitale, durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel | CAH durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel · Kongenitale adrenale Hyperplasie durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel |
| es | Hiperplasia suprarrenal congénita por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa | CAH por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa |
| it | Iperplasia congenita del surrene da deficit di 3-beta-idrossisteroido deidrogenasi | CAH da deficit di 3-beta-idrossisteroido deidrogenasi |
| nl | Congenitale adrenale hyperplasie door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase | CAH door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase · Congenitale bijnierhyperplasie door deficiëntie van 3-bèta-hydroxysteroïdedehydrogenase |
| pt | Hiperplasia supra-renal congénita por deficiência de 3-beta-hidroxi-esteróide desidrogenase | CAH por deficiência de 3-beta-hidroxi-esteróide desidrogenase |
| pl | Wrodzony przerost nadnerczy spowodowany niedoborem dehydrogenazy 3-beta-hydroksysteroidowej | CAH z powodu niedoboru dehydrogenazy 3-beta-hydroksysteroidowej |
| cs | Vrozená adrenální hyperplázie způsobená deficitem 3-beta-hydroxysteroid dehydrogenázy | CAH způsobená deficitem 3-beta-hydroxysteroid dehydrogenázy |
| uk | Вроджена гіперплазія надниркових залоз внаслідок дефіциту 3-бета-гідроксистероїддегідрогенази | АГС внаслідок дефіциту 3-бета-гідроксистероїддегідрогенази |
| zh | 3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生症 | 3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生 |
| tr | 3-beta-hidroksisteroid dehidrojenaz eksikliğine bağlı doğumsal adrenal hiperplazi | 3-beta-hidroksisteroid dehidrojenaz eksikliğine bağlı CAH |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201810 | E | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.01 | NTBT | index | validated |
| MONDO | 0008727 | E | validated | |
| MeSH | C538236 | E | validated | |
| UMLS | C0342471 | E | validated | |
| GARD | 9152 | 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 (3):
- ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare gynecological and obstetric diseases - 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD3B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5218 | ENSG00000203859 | 613890 | 1p12 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 68 cases | Worldwide | Case(s) | Validated | 12428206[PMID]_15671104[PMID]_17496421[PMID]_15448795[PMID]_15559435[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
36 annotations · validated 2021-04-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008258 | Congenital adrenal hyperplasia | |
| Frequent (79-30%) | ||
| HP:0500022 | Abnormal serum dehydroepiandrosterone level | |
| HP:0011749 | Adrenocorticotropic hormone excess | |
| HP:0000061 | Ambiguous genitalia, female | |
| HP:0000033 | Ambiguous genitalia, male | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0012041 | Decreased fertility in males | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0001944 | Dehydration | |
| HP:0031213 | Elevated circulating 17-hydroxyprogesterone | |
| HP:0000771 | Gynecomastia | |
| HP:0002153 | Hyperkalemia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0002902 | Hyponatremia | |
| HP:0000047 | Hypospadias | |
| HP:0002615 | Hypotension | |
| HP:0025380 | Increased circulating androstenedione concentration | |
| HP:0000848 | Increased circulating renin level | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000127 | Renal salt wasting | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0012881 | Abnormality of the labia majora | |
| HP:0000027 | Azoospermia | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0001508 | Failure to thrive | |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype | |
| HP:0001263 | Global developmental delay | |
| HP:0001007 | Hirsutism | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0000808 | Penoscrotal hypospadias | |
| HP:0012412 | Premature adrenarche | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31950145[PMID]_26290012[PMID]_33415088[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90791
- This record as JSON: /data/d/90791.json