17 alpha-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 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.