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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.