Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Androgens drive sexual dimorphism in Pilarowski-Bjornsson syndrome, with males showing protective effects linked to androgen regulation.
- Why it matters: Understanding sex-specific differences in Mendelian disorders is limited, hindering personalized diagnosis and treatment strategies for conditions like PILBOS.
- What they did: The study analyzed clinical data from the largest PILBOS cohort and used a mouse model with a human CHD1 variant, examining hormonal influences and genetic overrepresentation in databases.
- The result: Findings reveal androgens modulate phenotypes, with testosterone rescuing symptoms in females and a male-protective effect supported by genetic data, advancing insights into sex differences in genetic disorders.