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17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17
S F Witchel1, P A Lee, M Suda-Hartman
1Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania 15213, USA.
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.