Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
intersex condition |
| gptkbp:affects |
steroid metabolism
androgen biosynthesis |
| gptkbp:diagnosedBy |
genetic testing
hormonal assays |
| gptkbp:firstDescribed |
1974
|
| https://www.w3.org/2000/01/rdf-schema#label |
5α-reductase deficiency
|
| gptkbp:ICD-10_code |
E34.50
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SRD5A2 gene
|
| gptkbp:notableFor |
gptkb:Dominican_Republic
gptkb:Papua_New_Guinea |
| gptkbp:prevalence |
rare
|
| gptkbp:result |
impaired conversion of testosterone to dihydrotestosterone (DHT)
|
| gptkbp:symptom |
ambiguous genitalia
female or ambiguous external genitalia at birth normal internal male reproductive organs undervirilization in males virilization at puberty |
| gptkbp:treatment |
hormone therapy
|
| gptkbp:bfsParent |
gptkb:5α-reductase
|
| gptkbp:bfsLayer |
8
|