Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens protect against CHD1 deficiency, suggesting a mechanism for sex-specific penetrance in an autosomal disorder.