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

Study Objective: To determine whether human chorionic gonadotropin (hCG) stimulation elicits an exaggerated 17-hydroxyprogesterone (17-OHP) response in patients with functional ovarian hyperandrogenism., Methods: In this clinical study, healthy volunteers and hyperandrogenic patients in an outpatient General Clinical Research Center (GCRC) setting were studied. Five adolescent girls with functional ovarian hyperandrogenism were studied. Six healthy women with regular menstrual cycles volunteered for this study. Steroid hormone responses to hCG stimulation were measured before and 30, 240, and 300 minutes after hCG injection. Congenital adrenal hyperplasia was excluded through ACTH stimulation testing and molecular genetic analysis., Main Outcome Measure: 17-OHP responses., Results: Mean basal 17-OHP concentrations were greater in the hyperandrogenic patients, 110.4+/-41.2 ng/dL versus 61.8+/-28.6 ng/dL. After hCG stimulation, 17-hydroxyprogesterone concentrations significantly increased in the patients and were unchanged in the healthy controls., Conclusion: hCG stimulation elicited greater 17-hydroxyprogesterone responses in adolescent girls with functional ovarian hyperandrogenism compared with healthy controls. hCG stimulation may be helpful to confirm ovarian hyperandrogenism.

We report on a phenotypically normal girl with a deletion of the distal long arm of one X chromosome at Xq22, and spontaneous pubertal development including menarche. This suggests that the distal long arm of the X chromosome is not crucial for ovarian development. Cytogenetic and polymerase chain reaction (PCR) amplification methods both showed preferential inactivation of the deleted X chromosome. The PCR-based assay has the additional advantage of identifying the paternal origin of the deleted X chromosome.

17 beta-Hydroxysteroid dehydrogenase deficiency is an uncommon inherited disorder characterized by genital ambiguity and progressive pubertal virilization. We describe the clinical and biochemical features in a 13-year-old 46, XY individual who presented with progressive pubertal virilization.