Steroid profiling in the amniotic fluid: reference range for 12 steroids and interest in 21-hydroxylase deficiency.
Anne PourquetJordan TeoliAurore BoutyLucie RenaultFlorence RoucherDelphine MalletChantal RigaudFrédérique DijoudPierre MouriquandPierre-Yves MureDamien SanlavilleRené EcochardIngrid PlottonPublished in: The Journal of clinical endocrinology and metabolism (2022)
Our study provides information on foetal steroidogenesis and suggests reference values for 12 steroids during pregnancy. This allows a prenatal diagnosis of 21-hydroxylase deficiency within 24 hours and might be useful in the diagnosis of other variations of sex development (VSD).