ESPE Abstracts (2021) 94 P2-432

1Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey; 2Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey

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.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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