A Case of 11β-Hydroxylase Deficiency Detected in a Newborn Screening Program by Second-Tier LC-MS/MS

• Published in: Hormone research in paediatrics Vol. 69; no. 4; pp. 253 - 256
• Main Authors: Peter, M., Janzen, N., Sander, S., Korsch, E., Riepe, F.G., Sander, J.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland 01.01.2008
• Subjects: Novel Insights from Clinical Practice; Newborn screening; Tandem mass spectrometry; Congenital adrenal hyperplasia; CYP11B1

Background/Aim: 21-Hydroxylase deficiency congenital adrenal hyperplasia (CAH) is one of the target diseases in many newborn screening programs. 11β-Hydroxylase defiency is less frequent and does not cause salt-losing crisis. Thus, it is not a target disease for newborn screening. However, affected...