IEMbase 0126: HSD17B3-related 17-beta-Hydroxysteroid dehydrogenase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 126 |
| Nosology | 24.2.19.01 |
| Gene | HSD17B3 |
| External IDs | OMIM:264300; ORPHA:752 |
| Generated mapping | MAPPED, high confidence |
| Candidate DisMech targets | 46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as HSD17B3-related 17-beta-hydroxysteroid dehydrogenase deficiency, with alternate label 17b-HSD deficiency. Treatability is marked unknown.
The characteristic biochemical rows are increased FSH, increased LH, increased gonadotropins, and decreased testosterone. No clinical or treatment rows are listed in the extract.
DisMech phenotype coverage
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml is
the correct local target. It describes autosomal recessive HSD17B3 loss of
function with impaired androstenedione-to-testosterone conversion, reduced
fetal testicular testosterone, 46,XY undervirilization, and possible pubertal
virilization.
The local phenotype coverage includes cryptorchidism, hypospadias, ambiguous genitalia, female external genitalia in 46,XY individuals, infertility, inguinal hernia, increased androstenedione, gynecomastia, and penile hypoplasia. Biochemical coverage includes testosterone and androstenedione, and treatments include testosterone therapy and gonadectomy.
Concordance and completeness
Judgement: correct mapping, with DisMech clinically richer and IEMbase adding gonadotropin detail.
The mapping is strong for HSD17B3 and the low-testosterone biochemical axis. DisMech covers the core enzyme defect and the expected 46,XY DSD phenotype well. IEMbase contributes explicit elevated FSH/LH/gonadotropin rows that are not currently central in the local biochemical section.
Curation actions
- Keep
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yamlas the canonical target. - Consider adding FSH, LH, and gonadotropin elevation as biochemical or endocrine feedback rows if supported by the local evidence model.
- No mapping correction is needed.