ESPE Abstracts

Background: Children with classical congenital adrenal hyperplasia (CAH) require glucocorticoid replacement. In addition to auxological examinations, laboratory measurements of e.g. 17-hydroxyprogesterone and androstenedione in serum are also necessary to assess the required dosage of hydrocortisone. Another possibility for measuring precursor steroids is hair analysis, which has not yet been carried out in children with this issue. The role of so-called 11-oxygenated steroids in patients with CAH has also been discussed recently.

Objective and hypothesis: Is the analysis of steorides in hair suitable for the assessment of therapy quality in patients with CAH?

Method: In this prospective study of 26 children and adolescents with CAH, cortisol, 11-ketotestosterone and 11-hydroxyandrostenedione (and other steroids) were measured in hair samples from the occiput. Except for one sample, 3 cm of hair were measured to cover a period of about 3 months. The measurements were carried out by means of LC/MS.

Results: 24 samples (14 girls, 10 boys) could be evaluated, as 2 samples had too little material. Cortisol could be measured in varying concentrations in each hair sample. Only in 6 subjects with the highest cortisol levels of >300 pg/mg could 11-hydroxyandrostenedione also be measured. The median for hair cortisol in the remaining 18 subjects was 16.6 (range 4.8 - 102.9) and 11-hydroxyandrostenedione was not detectable. No difference in the dosage of hydrocortisone was found between the 6 and 18 subjects (13.37 and 13.70 mg/body surface/day, respectively).

Conclusion: Cortisol could be measured in all hair samples. This is plausible because all subjects were treated with hydrocortisone. However, a comparison between the doses of the groups with very high levels of cortisol in hair and average levels of cortisol showed no difference. Thus, the amount of exogenous intake of hydrocortisone cannot be verified by hair samples. The concentration of cortisol in hair of healthy children is about 2-6 pg/mg, depending on BMI, sex and tanner-stage. Thus, subjects with CAH have significantly higher concentrations of cortisol in hair. The association between high cortisol levels and only then measurable 11-hydroxyandrostenedione remains unclear. Furthermore, it should be noted that 11-ketotestosterone could only be detected in one subject. This sample was from an infant with mutations with 0% residual 21-hydroxylase-activity in the neonatal period. 11-ketotestosterone does not seem to be a suitable parameter for therapy adjustment. However, the lack of reference values from healthy controls and the small sample size remain major restrictions for interpretation.