Abstract
Study ObjectiveTo determine whether mutations occur in the 17α-hydroxylase/17,20-lyase (CYP17) gene in patients with mild hyperandrogenism. DesignClinical and molecular genetic study. SettingPediatric endocrine outpatient clinic in an academic research environment. ParticipantsGirls (n = 11) referred for evaluation of premature pubic hair and adolescent girls (n = 16) referred for evaluation of hirsutism and/or oligomenorrhea. InterventionsNone. Main Outcome MeasuresMutation detection analysis of the coding regions and intron/exon boundary regions of the CYP17 gene. ResultsTwo polymorphic nucleotides were identified in the CYP17 gene. No mutations were detected in the 27 subjects. ConclusionMutation detection studies presented herein exelude CYP17 as a candidate gene for premature pubic hair and adolescent hyperandrogenism.
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