17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17.
OBJECTIVE
To determine whether mutations occur in the 17 alpha-hydroxylase/17,20-lyase (CYP17) gene in patients with mild hyperandrogenism.


METHODS
Clinical and molecular genetic study.


METHODS
Pediatric endocrine outpatient clinic in an academic research environment.


METHODS
Girls (n = 11) referred for evaluation of premature pubic hair and adolescent girls (n = 16) referred for evaluation of hirsutism and/or oligomenorrhea.


METHODS
None.


METHODS
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.
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pennsylvania 15213, USA.
S F
SF
Witchel
P A
PA
Lee
M
M
Suda-Hartman
R
R
Smith
E P
EP
Hoffman
D000293:Adolescent; D000595:Amino Acid Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D011629:Puberty, Precocious / Q000235:genetics* / Q000503:physiopathology; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D013254:Steroid 17-alpha-Hydroxylase