Study objective: To determine whether mutations occur in the 17 alpha-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.
Conclusions: Mutation detection studies presented herein exclude CYP17 as a candidate gene for premature pubic hair and adolescent hyperandrogenism.