Abstract
CAH due to 21-hydroxylase (21-HD), 11-hydroxylase (11-HD) or 3β-hydroxysteroiddehydrogenase (3β-HD) deficiency can be diagnosed by detection of specific urinary steroid metabolites. Moreover, CAH-treatment can be controlled by quantitation of specific metabolites i.e.pregnane-3α,17α,20 otriol and pregnane-3α,17α,20 otriol-11 on in 21-HD, tetrahydro-11-desoxycortisol in 11-HD andΔ5pregnene-3β,17α 20 otriol and 16αhydroxy-Δ5pregnene-3β 01-20 on in 3β-HSD. We have developed a sensitive, highly specific automated method for the quantitative cGLC of TMSEE of these and other steroids. The method includes enzymatic hydrolysis, ether extraction, one-step derivatisation using N-methyl-N-trimethylsilyl-trifluoracetamid in presence of sodium acetate. The automated cGLC using solid injection separates about 10 samples/night. Because of the high resolution, no further purification step is needed. Mean coefficient of variation of the entire method is 12%. Unknown steroids can be detected by cGLC and identified by mass spectrometry. The TMSEE are convenient and stable enough for cGLC conditions. Ranges of steroid excretion in the different forms of CAH for four different age groups indicating optimal treatment have been established. In conclusion, cGLC with steroid TMSEE provides a precise, rapid and convenient tool for both diagnosis and treatment control of CAH.
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Knorr, D., Bidlingmaier, F., Butenandt, O. et al. Diagnosis and control of treatment of congenital adrenal hyperplasia (CAH) by semiautomated capillary gas-liquid-chomatography (cGLC) of steroid trimethylsilyl-enolethers (TMSEE). Pediatr Res 15, 1558 (1981). https://doi.org/10.1203/00006450-198112000-00137
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DOI: https://doi.org/10.1203/00006450-198112000-00137