IEMbase 0123: HSD11B2-related 11-beta-Hydroxysteroid dehydrogenase 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 123 |
| Nosology | 24.2.21.01 |
| Gene | HSD11B2 |
| External IDs | OMIM:218030; ORPHA:320 |
| Generated mapping | CANDIDATE, medium confidence |
| Candidate DisMech targets | Generated candidate 46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml; no valid HSD11B2/apparent mineralocorticoid excess target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as HSD11B2-related 11-beta-hydroxysteroid dehydrogenase 2 deficiency, with alternate labels apparent mineralocorticoid excess and AME. Treatability is marked unknown.
The characteristic biochemical rows are low potassium and a decreased urinary tetrahydrocortisol/tetrahydrocortisone ratio. No clinical or treatment rows are listed in the extract.
DisMech phenotype coverage
The generated candidate points to
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml, but
that is an HSD17B3 androgen-biosynthesis disorder, not HSD11B2 apparent
mineralocorticoid excess. Its scope is 46,XY undervirilization from impaired
androstenedione-to-testosterone conversion.
No local standalone HSD11B2, apparent mineralocorticoid excess, or AME disease target was found in the current DisMech disease set.
Concordance and completeness
Judgement: false-positive generated candidate; current local disease gap.
The lexical overlap around hydroxysteroid dehydrogenase is misleading. HSD11B2 apparent mineralocorticoid excess is a cortisol-cortisone/mineralocorticoid receptor protection disorder, whereas the generated candidate is a sex-steroid conversion DSD. The IEMbase biochemical signal is sparse but points cleanly to HSD11B2/AME and should not be mapped to HSD17B3 disease.
Curation actions
- Reject the generated HSD17B3 DSD candidate for this IEMbase record.
- Treat HSD11B2-related apparent mineralocorticoid excess as an unmapped local disease gap.
- Future curation should add a standalone AME/HSD11B2 entry with hypokalemia, cortisol-cortisone metabolite-ratio abnormalities, mineralocorticoid hypertension physiology, and HSD11B2 mechanism.