Endocrine Abstracts

Context: The biological diagnosis of adrenal disorders is currently based on the quantitation of serum steroids using automated immunoassays. These direct assays often lack the required accuracy and precision and interlaboratory surveys show that performance characteristics of MSMS are far better than those of automated immunoassays.

Method: After liquid chromatography of serum extracts, steroids were quantified on Waters QuattroPremier mass-spectrometer by either targeting several informative steroids for the diagnosis of congenital adrenal hyperplasia (CAH), or by establishing a complete steroid profile using the multisteroid-CHS-kit from PerkinElmer.

Subjects: Group 1: 10 subjects with suspected adrenal tumour (hirsutism and abnormal ultrasound imaging), Group 2: 26 neonates with suspected CAH (positive screening and/or hypoglycemia), Group 3: 10 preterm neonates positive at neonatal screening), Group 4: 10 female neonates with isolated clitoris enlargement.

Results: Group 1: the complete profile including glucocorticoids, mineralocorticoids, and androgens identified in a single run the pathological secretory pattern, with increased levels of DHEA-sulfate, androstenedione and cortisol precursors. Group 2: 19 neonates had normal levels of cortisol and cortisol precursors, precluding the diagnosis of CAH, 6 neonates had excessive 17-hydroxyprogesterone levels, with low cortisol levels, suggesting a 21-hydroxylase defect, 1 neonate had increased 11-deoxycortisol and androstenedione levels, whith low-normal cortisol level, data consistent with 11-hydroxylase blockade. Group 3: the multisteroid assay showed moderately elevated 17-hydroxyprogesterone relative to term neonates, with very high DHEA-sulfate levels and normal cortisol levels. The same subjects had normal steroid profile at 3 months of age. Group 4: the profile of 10 serum steroids was normal, precluding a disorder of sex steroid secretion.

Conclusion: Rapid multisteroid assays in a single run using MSMS allow confirming or rejecting the diagnosis of adrenal tumour or CAH within a few minutes. At the same time, that avoids unnecessary therapy, shortens the delay of treatment starting, and drastically cut the investigational costs.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details unavailable.