Background: Interpretation of the results of steroid hormone measurements is challenging at early infancy. The liquid chromatography-tandem mass spectrometry (LC-MS/MS) method provides a powerful tool for diagnosing steroidogenesis disorders. We aimed to develop normative data for a 14-steroid panel and four adrenal enzyme activity indices, determined by LC-MS/MS from 3 days to 6 months of age.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
November 2020
Background Sclerostin and osteoprotegerin (OPG) are new markers of chronic kidney disease (CKD) mediated mineral bone disease (CKD-MBD) which were extensively evaluated in adult population. We aimed to evaluate the associations between serum levels of sclerostin/OPG and parameters of bone turnover and compare the serum levels of sclerostin/OPG in different stages of CKD in children. Methods 70 children with CKD stage 1-5, aged 2-21 years were examined.
View Article and Find Full Text PDFAim: To compare the plasma N-terminal pro-C-type natriuretic peptide concentrations of normotensive pregnant women, patients with mild preeclampsia, and patients with severe preeclampsia.
Methods: We collected venous blood samples from 25 normotensive pregnant women, 15 patients with mild preeclampsia, and 15 patients with severe preeclampsia. The women were at 30th to 40th weeks of gestation and in an age range of 20 to 35.
The objective of the study was to assess the diagnostic efficacy of the coulometric endpoint method and compare it with classic Gibson&Cooke and chloridometer methods. This study is a prospective clinical study comparing two conventional sweat testing methods with the coulometric endpoint method in previously diagnosed cystic fibrosis (CF) patients and a non-CF control group. All individuals underwent two simultaneous sweat collections.
View Article and Find Full Text PDFBackground: Congenital sphingosine-1-phosphate (S1P) lyase deficiency due to biallelic mutations in SGPL1 gene has recently been described in association with primary adrenal insufficiency and steroid-resistant nephrotic syndrome. S1P lyase, on the other hand, is therapeutically inhibited by fingolimod which is an oral drug for relapsing multiple sclerosis (MS). Effects of this treatment on adrenal function has not yet been evaluated.
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