Snapshot A 13-year-old girl is evaluated by her pediatrician in the primary care clinic. She has severe acne that has been refractory to several treatment modalities. In addition, she reports having significant hair growth on her upper lip, chest, and armpits. Her voice has also become deeper in pitch in the past year. Her pediatrician has advised her to avoid playing contact sports, as her condition causes abnormal mineralization of her bones that may lead to fractures with minor trauma. She had genetic testing performed at birth, which revealed a mutation in the CYP19A1 gene. Introduction Overview login to view 1 more bullet Genetics login to view 4 more bullets Epidemiology Incidence login to view 2 more bullets ETIOLOGY Pathophysiology login to view 3 more bullets Presentation Symptoms login to view 5 more bullets Physical exam login to view 14 more bullets Studies Gene sequencing login to view 1 more bullet Differential 5α reductase deficiency login to view 3 more bullets Treatment Medical login to view 5 more bullets Surgical login to view 1 more bullet