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- W2022048783 abstract "Plasma and urinary steroids were investigated in an 8-yr-old male first seen at the age of 1 month with ambiguous genitalia. At the time of the study the patient remained a borderline salt-loser but did well even after discontinuation of cortisol substitution therapy. The daily excretion of 17-ketosteroids, 17-ketogenic steroids, Porter-Silber chromogens and aldosterone was 26 mg, 24 mg, 3.1 mg and 8.5 μg, respectively. These excretions did not change significantly on corticotrophin stimulation. Plasma neutral steroid mono- and disulfates and urinary neutral steroid mono- and disulfates as well as glucuronides were identified by gas-liquid chromatography and gas chromatography-mass spectrometry and were quantified. Of the compounds measured, 96 % of the plasma steroids (total 1.4 mg/100 ml) and 95% of the urinary steroids (total 103.85 mg/day) had a 3β-hydroxy-Δ5 structure. However, steroids with a 3α-hydroxy-5α, 3β- hydroxy-5α, 3α-hydroxy-5β and 3α-hydroxy-ΔB structure were also present. The main compounds in plasma were 5-pregnene-3β,17α,20αtriol, 5-pregnene-3β,20α-diol and dehydroepiandrosterone and those in urine 5-pregnene-3β,17α, 20α-triol and dehydroepiandrosterone. Urinary excretion of androsterone and 5β-pregnane- 3α,17α,20α-triol was also elevated." @default.
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- W2022048783 title "Plasma and Urinary Steroids in an Eight-Year-Old Boy with 3β-Hydroxysteroid Dehydrogenase Deficiency" @default.
- W2022048783 doi "https://doi.org/10.1210/jcem-31-2-162" @default.
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