Belgian Genetic Tests database
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
| Name: |
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
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| Description: |
A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
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| ORPHAcode: |
753
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| Synonyms: |
46,XY DSD due to 5-alpha-reductase 2 deficiency
Pseudovaginal perineoscrotal hypospadias
Steroid 5-alpha-reductase 2 deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
01 May 2022 - 06:55
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