The American Journal of Human Genetics· 2026Q1

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir et al.

2citations
Q1SCImago
2026year

Short summary

Androgens modulate the expression of Pilarowski-Bjornsson syndrome (PILBOS) features, with testosterone rescuing phenotypes in females and orchiectomy unmasking them in males.

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GeneticsBiochemistry, Genetics and Molecular Biology