DHX37 encodes a DEAH-box RNA helicase essential for ribosome biogenesis, specifically required for small ribosomal subunit maturation and U3 snoRNP release from pre-ribosomal particles 1. The protein functions as part of the small subunit processome, where it facilitates RNA folding, modifications, and cleavage during ribosome assembly in the nucleolus 1. DHX37 also plays critical roles in early testis development and brain development 1. Pathogenic variants in DHX37 cause two distinct clinical phenotypes: 46,XY disorders of sex development (DSD) including gonadal dysgenesis and testicular regression syndrome, and neurodevelopmental disorders with brain anomalies (NEDBAVC syndrome) characterized by microcephaly, seizures, and developmental delay 12. The most common DSD-associated variants are p.R308Q and p.R674W, with incomplete penetrance observed in males 3. In immunology, DHX37 functions as a suppressor of CD8 T cell effector functions and cytokine production through NF-κB pathway modulation 4. These diverse clinical manifestations suggest DHX37 represents a ribosomopathy with tissue-specific effects, though the precise mechanisms linking ribosome dysfunction to gonadal and neural development remain unclear 1.