Neonatal Screening for Congenital Adrenal Hyperplasia: a Pilot Study in France View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1986

AUTHORS

J. L. Dhondt , C. Dorche , J. P. Farriaux , C. Courte

ABSTRACT

Congenital adrenal hyperplasia (CAH) due to a deficiency of 21-hydroxylase is the most common inborn error of the adrenal steroid biosynthetic pathway. The considerable increase of 17α-hydroxyprogesterone (17-OHP) in the serum of CAH patients has been shown to be already evident at the neonatal period (Chaussain et al., 1974). Consequently, radioimmunoassays have been developed to measure 17-OHP in dried blood samples and have made neonatal screening programmes possible. More... »

PAGES

147-151

Book

TITLE

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia

ISBN

978-94-010-8332-4
978-94-009-4131-1

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-009-4131-1_16

DOI

http://dx.doi.org/10.1007/978-94-009-4131-1_16

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1021095695


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