Elevated Levels of Plasma Immunoassayable Aldosterone in a Mild Form of 17 Alpha-Hydroxylase/17,20-lyase Deficiency Diagnosed at the Age of 50

ABSTRACT: Objective: 17 Alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a form of congenital adrenal hyperplasia caused by homozygous or compound heterozygous mutations in the CYP17A1 gene. Impaired activities of 17 alpha-hydroxylase and 17,20-lyase typically induce hypertension, hypokalemia, an...

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Main Authors: Yohei Ueda, MD, Takeshi Usui, MD, Tomokazu Watanabe, MD, Keiichi Kaneko, MD, PhD, Rieko Nakatani, MD, Maiko Kakita-Kobayashi, MD, Kanako Tanase-Nakao, MD, Kazutaka Nanba, MD, Mika Tsuiki, MD, PhD, Tetsuya Tagami, MD, PhD, Mitsuhide Naruse, MD, PhD, Yuko Toyoda, MD, Keiko Homma, PhD, Tomonobu Hasegawa, MD, PhD, Akira Shimatsu, MD, PhD
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520302467