Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is primarily caused by 21-hydroxylase deficiency and leads to an accumulation of 17-hydroxyprogesterone and reduced cortisol levels. Newborn screening for CAH is traditionally based on measuring 17-hydroxyprogesterone by different immunoassays. Despite attempts t...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2004-08, Vol.89 (8), p.3687-3693
Hauptverfasser:	Minutti, Carla Z., Lacey, Jean M., Magera, Mark J., Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H., Lymp, James F., Zimmerman, Donald, Rinaldo, Piero, Matern, Dietrich
Format:	Artikel
Sprache:	eng
Schlagworte:	17-alpha-Hydroxyprogesterone - blood Adrenal Hyperplasia, Congenital - diagnosis Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Androstenedione - blood Biological and medical sciences Chromatography, Liquid Endocrinopathies Fundamental and applied biological sciences. Psychology Humans Hydrocortisone - blood Infant, Newborn Mass Spectrometry - methods Medical sciences Neonatal Screening - methods Neonatal Screening - standards Non tumoral diseases. Target tissue resistance. Benign neoplasms Predictive Value of Tests Retrospective Studies Sensitivity and Specificity Single-Blind Method Vertebrates: endocrinology
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