Table 2 Summary of the frequency of DHX37 pathogenic variants found in association with each 46,XY DSD subtype

From: Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Phenotype

DHX37 Amino acid change

Frequency

46,XY Gonadal dysgenesis (n = 81)

p.T304M (2), p.R308Q (4), p.R334L, R674Q (2)

9/81 (11%)

46,XY Testicular regression syndrome (n = 16)

p.R308Q, p.R334W, p.S626L, p.G1030E

4/16 (25%)

46,XY DSD (boy with penoscrotal hypospadias) (n = 33)

-

0

46,XY Anorchia (n = 15)

-

0

  1. DSD disorders/differences of sex development.
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