17α-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17

S. F. Witchel, Peter Lee, M. Suda-Hartman, R. Smith, E. P. Hoffman

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Abstract

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

Original languageEnglish (US)
Pages (from-to)133-137
Number of pages5
JournalJournal of Pediatric and Adolescent Gynecology
Volume11
Issue number3
DOIs
StatePublished - Jan 1 1998

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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