Journal ArticleDOI
Microfilter Paper Method for 17α-Hydroxyprogesterone Radioimmunoassay: Its Application for Rapid Screening for Congenital Adrenal Hyperplasia
TLDR
In six neonates at risk for CAH the diagnosis was made utilizing the microfilter paper method, and the concentrations of 17α-OH-P were highly elevated in both filter paper eluates of whole blood and simultaneously obtained plasma concentration in affected infants.Abstract:
A new micromethod for measuring a steroid in blood collected on filter paper has been developed. The method is easy and rapid and has the specificity, accuracy and precision of RIA in whole plasma. Less than 20 μl of blood is required, and, therefore, samples may be obtained with heel prick. This method has been applied to the determination of 17α-hydroxyprogesterone (17α-OH-P) for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. There was excellent correlation (r = .94) between the values of 17α-OH-P obtained by microfilter paper method and those from plasma samples of cord (40 ± 13 ng/ml) and neonatal blood (<3.6 ng/ml) in normal infants. In six neonates at risk for CAH the diagnosis was made utilizing the microfilter paper method. 17α-OH-P concentrations were highly elevated in both filter paper eluates of whole blood (67–360 ng/ml of plasma) and simultaneously obtained plasma concentration (74–395 ng/ml) in affected infants. The concentrations of 17α-OH-P ...read more
Citations
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Journal ArticleDOI
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
Phyllis W. Speiser,Ricardo Azziz,Laurence S. Baskin,Lucia Ghizzoni,Terry W. Hensle,Deborah P. Merke,Heino F. L. Meyer-Bahlburg,Walter L. Miller,Victor M. Montori,Sharon E. Oberfield,Martin Ritzén,Perrin C. White +11 more
TL;DR: Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
Journal ArticleDOI
Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.
Maria I. New,Franziska Lorenzen,Alan J. Lerner,Brenda Kohn,S E Oberfield,Marilyn S. Pollack,Bo Dupont,Elizabeth Stoner,Donna Levy,Songya Pang,Lenore S. Levine +10 more
TL;DR: Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia and provide a powerful tool by which to assign the 21-OH deficiency genotype.
Journal ArticleDOI
Dried blood spot sampling in combination with LC-MS/MS for quantitative analysis of small molecules.
Wenkui Li,Francis L. S. Tse +1 more
TL;DR: This review highlights some important aspects of developing and validating a rugged DBS-LC-MS/MS method for quantitative analysis of small molecules along with DBS sample collection, processing and storage.
Journal ArticleDOI
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Phyllis W. Speiser,Jakob Dupont,Deguang Zhu,Jorge Serrat,Miriam Buegeleisen,María Teresa Tusié-Luna,Martin Lesser,Maria I. New,Perrin C. White +8 more
TL;DR: The data suggest that most but not all of the phenotypic variability in 21-hydroxylase deficiency results from allelic variation in CYP21, which should be possible in most cases using the described strategy.
Journal ArticleDOI
Вроджена гіперплазія надниркових залоз внаслідок дефіциту 21-гідроксилази. Клінічні практичні настанови Ендокринологічного Товариства. Частина 1
TL;DR: In this article, the authors propose a new approach for the detection of thyroid cancer using a blood test, which is based on a combination of immunoglobulin and glucosinoline.
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Journal ArticleDOI
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