PMID: 18411135Jul 1, 1990Paper

Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Trends in Endocrinology and Metabolism : TEM
S Pang, A Clark

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can be detected by newborn screening. Benefits of screening for affected newborns include the prevention of severe adrenal crisis, its sequelae, and progressive signs of androgen excess. First-trimester prenatal diagnosis is possible by HLA typing and/or DNA analysis of genes within the HLA complex of chorionic villus cells; for second-trimester diagnosis, hormonal measurement o f amniotic fluid and HLA typing or DNA analysis of amniotic cells are used. Results of prenatal treatment of CAH have varied, and the efficacy of prenatal treatment by maternal glucocorticoid therapy requires further investigation.

References

Apr 1, 1990·The Journal of Clinical Endocrinology and Metabolism·P W SpeiserE Schriock
Mar 1, 1988·American Journal of Medical Genetics·A A KilleenH T Orr
Jul 1, 1985·The Journal of Clinical Endocrinology and Metabolism·S PangM I New

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Citations

Jun 27, 2002·Current Urology Reports·M I New
Mar 18, 1999·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·M Cartigny-MaciejewskiE Paux
Jul 27, 1999·The Journal of Steroid Biochemistry and Molecular Biology·A D CarlsonM I New
Apr 15, 2008·Trends in Endocrinology and Metabolism : TEM·W L Miller
Jun 1, 1995·Journal of Paediatrics and Child Health·Y J LimG L Warne
Mar 24, 1998·Annual Review of Medicine·M I New
Oct 27, 1999·Proceedings of the National Academy of Sciences of the United States of America·M I New, R C Wilson
Jan 16, 1999·Baillière's Clinical Endocrinology and Metabolism·I A Hughes
Apr 1, 1993·The Journal of Steroid Biochemistry and Molecular Biology·M G ForestY Morel
Jan 1, 1996·Urology·D P SmithB Mercer
Jan 1, 1993·Pharmacology & Therapeutics·W F Rayburn, G G Payne
Feb 13, 2016·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Toshihiro Tajima, Masaru Fukushi
Aug 20, 2010·Prenatal Diagnosis·Ranjit AkolekarKypros H Nicolaides
Apr 16, 2010·Annals of the New York Academy of Sciences·Saroj Nimkarn, Maria I New
Aug 1, 1991·Current Problems in Surgery·P K DonahoeM M Lee
Jul 20, 1999·The Journal of Urology·E Shapiro
Jul 20, 1999·The Journal of Urology·P W Speiser
Jun 1, 1995·The Journal of Urology·J MandellB R Benacerraf
May 3, 2014·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Shuntaro MorikawaToshihiro Tajima
Dec 23, 2008·Molecular and Cellular Endocrinology·Saroj Nimkarn, Maria I New
Sep 5, 2001·American Journal of Human Biology : the Official Journal of the Human Biology Council·Melanie BlacklessEllen Lee
Nov 20, 2018·Sociology of Health & Illness·Mabel LiePaul D Griffiths
Aug 29, 2003·Pediatric Annals·Songya Pang
Oct 19, 2006·Hormone Research·Saroj Nimkarn, Maria I New
Mar 16, 2013·Journal of Anaesthesiology, Clinical Pharmacology·Ca TejeshPt Prathima
Jan 1, 2008·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Toshihiro Tajima, Kenji Fujieda
Nov 1, 1996·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·P R Garner
Jul 25, 2019·Frontiers in Endocrinology·Duarte PignatelliDjuro Macut

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