SAT-069 A Case of Congenital Hypoaldosteronism Due to Aldosterone Synthase Deficiency Misdiagnosed as Classic Congenital Adrenal Hyperplasia

Background: The clinical presentation of congenital hypoaldosteronism due to aldosterone synthase (aka corticosterone methyloxidase; CMO) deficiency varies with age and infants present with signs/symptoms of isolated mineralocorticoid deficiency. Classic congenital adrenal hyperplasia (CAH) due to 2...

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Veröffentlicht in:J Endocr Soc
Hauptverfasser: Mallappa, Ashwini, Lao, Qizong, Lokhmatova, Kira, Veeraraghavan, Padmasree, Merke, Deborah
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2019
Schlagworte:
Cardiovascular Endocrinology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552235/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-069
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