Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency
Authors' conclusion
Our study provides information on fetal steroidogenesis and suggests reference values for 12 steroids during pregnancy. This allows a prenatal diagnosis of 21OHD within 24 hours and might be useful in the diagnosis of other variations of sex development.
Study context
- Population
- Amniotic fluid samples throughout pregnancy (12 + 6 to 32 + 4 GW); chromosomal sex by karyotype, gestational age by biometric measurements
- Participants
- 23 vs 145
- Exposure
- Amniotic fluid steroid levels in fetuses with classic 21OHD vs controls
- 21OHDn = 23
- Controlsn = 145reference
- Outcome
- Reference ranges of 12 steroid levels throughout pregnancy and comparison with pregnancies with fetuses with 21OHD
Methodological detailsLC-MS/MS steroid profiling, reference range study
- LC-MS/MS steroid profiling
- Reference range study
Main finding
As reported in the abstract
- Statistically significant difference in D4 and testosterone levels according to fetal sex
- Cortisol, corticosterone and deoxycorticosterone (DOC) lower before 20 GW than after 20 GW; 17Pregn and pregnenolone higher before 20 GW
- Age- and sex-dependent reference values established
Observational data: associations, not effects.
Further findings
Steroid levels in 21OHD vs controls
- Higher 21OH, 17Pregn, D4 and testosterone levels in females with 21OHD than female controls
- Ratios 17OHP/17Pregn, D4/dehydroepiandrosterone (DHEA) and 11OH/17OHP appeared discriminant for the diagnosis of 21OHD
Original publication
Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. Published 19 November 2022. doi:10.
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