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5α-Reductase 2 deficiency

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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Causes
Mutations in the SRD5A2 gene.
Other names
5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
Specialty
Medical genetics

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5α-Reductase 2 deficiency

Nodes75
Edges74
Triples8
Avg. degree1.97
Density0.026667
Components1

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5α-Reductase 2 deficiency

Top relations

Causes · 1
5α-Reductase 2 deficiency → Mutations in the SRD5A2 gene.
Other names · 1
5α-Reductase 2 deficiency → 5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.
Specialty · 1
5α-Reductase 2 deficiency → Medical genetics

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Important terminology

srd5a2 male sex genitalia dht 5αr2d deficiency affected development mutations gene testosterone individuals hypospadias people androgen type 5αr2 female birth

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
5α-Reductase 2 deficiencyCausesMutations in the SRD5A2 gene.1.00infobox
5α-Reductase 2 deficiencyOther names5-alpha reductase deficiency, Pseudovaginal perineoscrotal hypospadias 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency.1.00infobox
5α-Reductase 2 deficiencySpecialtyMedical genetics1.00infobox
partial androgen insensitivity syndromeinstance ofXY DSD from other causes0.80text
17β-hydroxysteroid dehydrogenase 3 deficiencyinstance ofXY DSD from other causes0.80text
urethralinstance ofmass spectrometry.Ultrasonography is the primary means for assessing internal reproductive organs for diagnosis while genitography and voiding cystourethrography are used to res…0.80text
vaginal tractsinstance ofmass spectrometry.Ultrasonography is the primary means for assessing internal reproductive organs for diagnosis while genitography and voiding cystourethrography are used to res…0.80text
childhood gonadectomyinstance ofand social situation.Female sex rearing in 5αR2D individuals involves surgical procedures0.80text

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