ESPE2022 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (30 abstracts)
Case Report:Clinical and genetic features of 46, XY DSD caused by a mutation in DHX37 gene
Yu Yang 1 , Hui Huang 1 , Tieniu Wu 2 & Li Yang 1
1The Affilliated Children’s Hospital of Nanchang University, Nanchang, China; 2Department of Pediatric, Ganzhou Maternal and Child Health Hospital, Ganzhou, China
The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens, epididymal duct, and fallopian tube structures. This is the first case of 46, XY DSD caused by DHX37 gene mutation in China, which will give new insights for the diagnosis and treatment of pediatric disease and reliable genetic evidence for family reproduction.
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