Salivary androgens in adolescence and their value as a marker of puberty: results from the SCAMP cohort

Context: Salivary androgens represent non-invasive biomarkers of puberty that may have utility in clinical and population studies. Objective: To understand normal age-related variation in salivary sex steroids and demonstrate their correlation to pubertal development in young adolescents. Design, Setting, and participants: School-based cohort study of 1,495 adolescents at two time points for collecting saliva samples approximately two years apart. Outcome measures: The saliva samples were analyzed for five androgens (testosterone, androstenedione (A4), 17-hydroxyprogesterone (17-OHP), 11-ketotestosterone (11-KT) and 11β-hydroxyandrostenedione (11-OHA4)) using LC-MS/MS; in addition, salivary dehydroepiandrosterone (DHEA) and oestradiol (OE2) were analyzed by ELISA. Pubertal staging was self-reported using the pubertal development scale (PDS). Results: In 1,236 saliva samples from 903 boys aged between 11-16 years, salivary androgens except DHEA exhibited an increasing trend with an advancing age (ANOVA, p<0.001), with salivary testosterone and A4 concentration showing the strongest correlation (r=0.55, p<0.001 and r=0.48, p<0.001, respectively). In a subgroup analysis of 155 and 63 saliva samples in boys and girls, respectively morning salivary testosterone concentrations showed the highest correlation with composite PDS scores and voice-breaking category from PDS self-report in boys (r=0.75, r=0.67, respectively). In girls, salivary DHEA and OE2 had negligible correlations with age or composite PDS scores. Conclusion: In boys aged 11-16 years, increase in salivary testosterone and A4 is associated with self-reported pubertal progress and represent valid non-invasive biomarkers of puberty in boys

The use of genetics for reaching a diagnosis in XY DSD.

Reaching a firm diagnosis is vital for the long-term management of a patient with a difference or disorder of sex development (DSD). This is especially the case in XY DSD where the diagnostic yield is particularly low. Molecular genetic technology is playing an increasingly important role in the diagnostic process, and it is highly likely that it will be used more often at an earlier stage in the diagnostic process. In many cases of DSD, the clinical utility of molecular genetics is unequivocally clear, but in many other cases there is a need for careful exploration of the benefit of genetic diagnosis through long-term monitoring of these cases. Furthermore, the incorporation of molecular genetics into the diagnostic process requires a careful appreciation of the strengths and weaknesses of the evolving technology, and the interpretation of the results requires a clear understanding of the wide range of conditions that are associated with DSD