[HTML][HTML] Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46, XY gonadal dysgenesis and 46, XY testicular regression syndrome

K McElreavey, A Jorgensen, C Eozenou, T Merel… - Genetics in …, 2020 - Elsevier
Purpose XY individuals with disorders/differences of sex development (DSD) are
characterized by reduced androgenization caused, in some children, by gonadal
dysgenesis or testis regression during fetal development. The genetic etiology for most
patients with 46, XY gonadal dysgenesis and for all patients with testicular regression
syndrome (TRS) is unknown. Methods We performed exome and/or Sanger sequencing in
145 individuals with 46, XY DSD of unknown etiology including gonadal dysgenesis and …