Hyperandrogenism due to cortisone reductase deficiency
Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperandrogenism due to cortisone reductase deficiency | 11-beta-hydroxysteroid dehydrogenase deficiency type 1 |
| fr | Hyperandrogénie par déficit en cortisone réductase | Déficit en 11-bêta-hydroxystéroïde déshydrogénase type 1 |
| de | Hyperandrogenismus durch Cortison-Reduktase-Mangel | 11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 1 |
| es | Hiperandrogenismo por deficiencia de cortisona reductasa | Deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo 1 · Deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo I |
| it | Iperandrogenismo da deficit di cortisone reduttasi | Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 1 |
| nl | Hyperandrogenisme door cortisonereductasedeficiëntie | 11-bèta-hydroxysteroïdedehydrogenasedeficiëntie type 1 |
| pt | Hiperandrogenismo por deficiência de cortisona-reductase | |
| pl | Hiperandrogenizm z powodu niedoboru reduktazy kortyzonu | Niedobór dehydrogenazy 11-beta-hydroksysteroidowej typu 1 |
| cs | Hyperandrogenismus způsobený deficitem kortison reduktázy | Deficit 11-beta-hydroxysteroid dehydrogenázy, typ 1 |
| uk | Гіперандрогенія внаслідок дефіциту кортизонредуктази | Дефіцит 11-бета-гідроксистероїддегідрогенази типу 1 |
| zh | 皮质醇还原酶缺乏所致高雄激素血症 | 11-β-羟基固醇脱氢酶缺乏症1型 |
| tr | Kortizon redüktaz eksikliğine bağlı hiperandrojeni | 11-beta-hidroksisteroid dehidrojenaz eksikliği tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604931 | BTNT | validated | |
| OMIM | 614662 | BTNT | validated | |
| ICD-10 | E25.0 | NTBT | attributed | validated |
| ICD-11 | 5A71.Y | NTBT | index | validated |
| MONDO | 0000193 | E | validated | |
| UMLS | C4329210 | E | validated | |
| GARD | 9882 | 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 (3):
- ORPHA:181412Adrenogenital syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:180208Anomaly of puberty or/and menstrual cycle
rare gynecological and obstetric diseases - ORPHA:202940Anomaly of puberty or/and menstrual cycle of genetic origin
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| H6PD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4795 | ENSG00000049239 | 138090 | 1p36.22 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | 18628520[PMID] |
| HSD11B1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5208 | ENSG00000117594 | 600713 | 1q32.2 | hydroxysteroid 11-beta dehydrogenase 1 | 21325058[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
HPO phenotypes
10 annotations · validated 2025-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031186 | Abnormal circulating deoxycorticosterone level | |
| HP:0008258 | Congenital adrenal hyperplasia | |
| HP:0025436 | Elevated serum 11-deoxycortisol | |
| HP:0000822 | Hypertension | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0000858 | Irregular menstruation | |
| Occasional (29-5%) | ||
| HP:0003351 | Decreased circulating renin concentration | |
| HP:0002900 | Hypokalemia | |
| HP:0000826 | Precocious puberty | |
| HP:0012412 | Premature adrenarche | |
Annotation source: 30223866[PMID]_36578966[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168588
- This record as JSON: /data/d/168588.json