Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Kenneth McElreaveyAnne JørgensenCaroline EozenouTiphanie MerelJoelle Bignon-TopalovicDaisylyn Senna TanDenis HouzelsteinFederica BuonocoreNick WarrRaissa G G KayMatthieu PeycelonJean-Pierre SiffroiInas MazenJohn C AchermannYuliya ShcherbakJuliane LegerAgnes SallaiJean-Claude CarelLaetitia MartinerieRomain Le RuGerard S ConwayBrigitte MignotLionel Van MaldergemRita BertalanEvgenia GlobaRaja BraunerRalf JauchSerge NefAndy GreenfieldAnu BashambooPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
DHX37 pathogenic variants are a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and TRS, showing that these conditions are part of a clinical spectrum. This raises the possibility that some forms of DSD may be a ribosomopathy.