Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bilateral cryptorchidism, in addition to microcephaly, developmental delay and extreme myopia due to biallelic mutations in the DHX37 gene.
Conclusion: Although monoallelic DHX37 gene mutations are associated with 46,XY DSD, biallelic DHX37 mutations may also cause 46,XY DSD in addition to concomitant neurodevelopmental disorders.
22 Sep 2021 - 26 Sep 2021