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5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by mutations impairing the function of SRD5A2, a gene located on chromosome 2 and encoding the enzyme 5α-reductase type 2 (5αR2). 5αR2 is expressed in specific tissues and catalyzes the transformation of testosterone (T) to 5α-dihydrotestosterone (DHT). DHT plays a key role in…
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srd5a2 male sex genitalia dht 5αr2d deficiency affected development mutations gene testosterone individuals hypospadias people androgen type 5αr2 female birth
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| 5α-Reductase 2 deficiency | Causes | Mutations in the SRD5A2 gene. | 1.00 | infobox |
| 5α-Reductase 2 deficiency | Other names | 5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency. | 1.00 | infobox |
| 5α-Reductase 2 deficiency | Specialty | Medical genetics | 1.00 | infobox |
| partial androgen insensitivity syndrome | instance of | XY DSD from other causes | 0.80 | text |
| 17β-hydroxysteroid dehydrogenase 3 deficiency | instance of | XY DSD from other causes | 0.80 | text |
| urethral | instance of | mass spectrometry.Ultrasonography is the primary means for assessing internal reproductive organs for diagnosis while genitography and voiding cystourethrography are used to res… | 0.80 | text |
| vaginal tracts | instance of | mass spectrometry.Ultrasonography is the primary means for assessing internal reproductive organs for diagnosis while genitography and voiding cystourethrography are used to res… | 0.80 | text |
| childhood gonadectomy | instance of | and social situation.Female sex rearing in 5αR2D individuals involves surgical procedures | 0.80 | text |
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