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IEMbase 0118: HSD3B2-related 3-beta-hydroxysteroid dehydrogenase deficiency

Scope

Field Value
IEMbase ID 118
Nosology 24.2.04.01
Gene HSD3B2
External IDs OMIM:201810; ORPHA:418
Generated mapping MAPPED, high confidence
Candidate DisMech targets Congenital_Adrenal_Hyperplasia.yaml#3B-HSD
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as HSD3B2-related 3-beta-hydroxysteroid dehydrogenase deficiency, with alternate labels 3beta-HSD deficiency and congenital adrenal hyperplasia. Treatability is marked unknown.

The characteristic biochemical rows are hyperkalemia, hyponatremia, increased 17-OH-pregnenolone, decreased aldosterone, decreased cortisol, increased DHEAS, and decreased sex hormones. The cached JSON has no clinical rows for this record. Treatments listed are glucocorticoids and mineralocorticoids.

DisMech phenotype coverage

Congenital_Adrenal_Hyperplasia.yaml includes a 3B-HSD subtype described as HSD3B2-related disruption of glucocorticoid, mineralocorticoid, and sex-steroid synthesis. HSD3B2 pathogenic variants are represented in the genetic section. The broad CAH phenotype coverage includes adrenal insufficiency, salt-wasting electrolyte crisis, ambiguous genitalia/virilization, and hormone replacement therapy with glucocorticoids and mineralocorticoids.

The local entry does not currently have a dedicated HSD3B2 pathophysiology node or HSD3B2-specific biochemical profile comparable to the CYP21A2, CYP11B1, and CYP17A1 nodes.

Concordance and completeness

Judgement: correct subtype-level mapping, but local coverage is thin for this specific subtype.

The target is correct for HSD3B2/3B-HSD deficiency and treatment overlap is good. IEMbase is substantially more granular for biochemical completeness: 17-OH-pregnenolone, DHEAS, aldosterone, cortisol, sodium, potassium, and sex hormones are all subtype-specific signals that are not individually represented in DisMech. DisMech has the right umbrella/subtype structure but less mechanistic depth for this subtype than for 21-OHD or 17A-OHD.

Curation actions

  • Keep Congenital_Adrenal_Hyperplasia.yaml#3B-HSD as the current target.
  • Add a future HSD3B2 pathophysiology node if the CAH entry is expanded.
  • Consider adding subtype-specific biochemical rows for 17-OH-pregnenolone, DHEAS, aldosterone, cortisol, sodium, potassium, and sex hormone deficiency.