ESPE Abstracts

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 bil...