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

Research output: Contribution to journalArticle

13 Citations (Scopus)

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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Steroid 17-alpha-Hydroxylase
Mixed Function Oxygenases
Mutation
Hyperandrogenism
Hair
Genes
Oligomenorrhea
Hirsutism
Ambulatory Care Facilities
Introns
Molecular Biology
Exons
Nucleotides
Outcome Assessment (Health Care)
Pediatrics
Research

All Science Journal Classification (ASJC) codes

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

Cite this

Witchel, S. F. ; Lee, Peter ; Suda-Hartman, M. ; Smith, R. ; Hoffman, E. P. / 17α-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17. In: Journal of Pediatric and Adolescent Gynecology. 1998 ; Vol. 11, No. 3. pp. 133-137.
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17α-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17. / Witchel, S. F.; Lee, Peter; Suda-Hartman, M.; Smith, R.; Hoffman, E. P.

In: Journal of Pediatric and Adolescent Gynecology, Vol. 11, No. 3, 01.01.1998, p. 133-137.

Research output: Contribution to journalArticle

TY - JOUR

T1 - 17α-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17

AU - Witchel, S. F.

AU - Lee, Peter

AU - Suda-Hartman, M.

AU - Smith, R.

AU - Hoffman, E. P.

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AB - 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.

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