17α-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17

Study Objective: To determine whether mutations occur in the 17α-hydroxylase/17,20-lyase (CYP17) gene in patients with mild hyperandrogenism. Design: Clinical and molecular genetic study. Setting: Pediatric endocrine outpatient clinic in an academic research environment. Participants: Girls (n = 11) referred for evaluation of premature pubic hair and adolescent girls (n = 16) referred for evaluation of hirsutism and/or oligomenorrhea. Interventions: None. Main Outcome Measures: Mutation detection analysis of the coding regions and intron/exon boundary regions of the CYP17 gene. Results: Two polymorphic nucleotides were identified in the CYP17 gene. No mutations were detected in the 27 subjects. Conclusion: Mutation detection studies presented herein exclude CYP17 as a candidate gene for premature pubic hair and adolescent hyperandrogenism.