ESPE2021 ePoster Category 2 Sex differentiation, gonads and gynaecology or sex endocrinology (52 abstracts)
46,XY DSD due to biallelic DHX37 gene mutations
Mehmet Eltan 1 , Didem Helvacioglu 1 , Esra Arslan Ates 2 , Zehra Yavas Abali 1 , Serap Turan 1 , Abdullah Bereket 1 & Tulay Guran 1
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.
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