Falsely elevated plasma testosterone concentrations in neonates : importance of LC-MS/ MS measurements
CITATION: Hamer, H.M. et al. 2018. Falsely elevated plasma testosterone concentrations in neonates : importance of LC-MS/ MS measurements. Clinical Chemistry and Laboratory Medicine (CCLM), 56(6):e141–e143, doi:10.1515/cclm-2017-1028.
The original publication is available at https://www.degruyter.com/view/j/cclm
In newborns with atypical genitalia, suspicious for a disorder of sex development (DSD), measurement of testosterone is an essential part in the diagnostic workup. Previously, direct testosterone immunoassays have proven to be inaccurate because they tend to overestimate testosterone concentrations in the lower ranges, such as those in females and infants, but specifically also in neonates. Based on the concern for cross-reactivity in neonatal samples, the recently revised UK guideline on the initial evaluation of DSD from the UK Society for Endocrinology recommends that steroids in plasma or serum are measured by either LC-MS/MS or immunoassays after organic solvent extraction. The use of LC-MS/MS was considered superior by a recent consensus meeting of DSD experts across Europe, although validation and quality control remain challenging.