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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 ...

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Citations
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Journal ArticleDOI

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.

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.

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.

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.
References
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Journal ArticleDOI

Successful laboratory screening for congenital hypothyroidism.

TL;DR: An infant with subclinical congenital hypothyroidism was successfully detected by a screening test which measured thyroid-stimulating hormone (T.S.H.) in umbilical cord serum, helping to significantly reduce the number of patients with irreversible mental retardation caused by untreated congenital Hypothyroidistan.
Journal ArticleDOI

Functional luteolysis in the rhesus monkey: the role of estrogen.

TL;DR: It is demonstrated that small increments in circulating estradiol can induce functional luteolysis in the rhesus monkey and support the hypothesis that estrogens play a role in the physiological regression of the corpus luteum during the normal menstrual cycle of primates.
Journal ArticleDOI

The application of a serum 17OH-progesterone radioimmunoassay to the diagnosis and management of congenital adrenal hyperplasia.

TL;DR: Serum concentrations of 17OH-progesterone were studied serially over 24 hours in 13 treated and untreated patients with the C21 hydroxylase form of congenital adrenal hyperplasia to confirm the value of 17 OH-proGESterone assays in both the diagnosis and management of CAH.
Journal ArticleDOI

Serum 17-α-hydroxyprogesterone, progesterone, estradiol, and testosterone in the diagnosis and management of congenital adrenal hyperplasia

TL;DR: It appears that several variables, including diurnal variation, timing of the sample in relation to the last dose of a glucocorticoid, and chronic suppression of the hypothalamic-pituitary-adrenal axis, in addition to the degree of control, may affect a single serum steroid determination.
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