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Article

Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns.

European journal of endocrinology - 1 Apr 2009

Schreiner Felix, Tozakidou Magdalini, Maslak Rita, Holtkamp Ute, Peter Michael, Gohlke Bettina, Woelfle Joachim

Abstract excerpt

OBJECTIVE: 17-Hydroxyprogesterone (17-OHP) screening for classical congenital adrenal hyperplasia (CAH) is part of many newborn screening programs worldwide. Cut-off values are relatively high, and screening sensitivity does not reach 100%. Recently, the glucocorticoid receptor (GR) N363S-variant has been linked to relatively low degree of virilization and comparatively lower 17-OHP serum concentrations in...

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Share to 17-alpha-Hydroxyprogesterone
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromatography, High Pressure Liquid

Share to Infant, Newborn

Share to Polymorphism, Restriction Fragment Length

Share to Receptors, Glucocorticoid

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 19174530
DOI: 10.1530/EJE-08-0639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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