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

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

AACE Clinical Case Reports (Jan 2015)

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

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

Affiliations

Yohei Ueda, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Takeshi Usui, MD: Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan; Address correspondence to Dr. Takeshi Usui; Clinical Research Institute, National Hospital Organization Kyoto Medical Center; 1-1 Mukaihata-cho Fukakusa; Fushimi-ku Kyoto 612-8555, Japan.
Tomokazu Watanabe, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Keiichi Kaneko, MD, PhD: Nephrology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Rieko Nakatani, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Maiko Kakita-Kobayashi, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Kanako Tanase-Nakao, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Kazutaka Nanba, MD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Mika Tsuiki, MD, PhD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Tetsuya Tagami, MD, PhD: From the Departments of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Mitsuhide Naruse, MD, PhD: Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Yuko Toyoda, MD: Pediatrics, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Keiko Homma, PhD: Central Clinical Laboratories, Keio University Hospital, Tokyo, Japan.
Tomonobu Hasegawa, MD, PhD: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Akira Shimatsu, MD, PhD: Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

Journal volume & issue: Vol. 1, no. 3
pp. e156 – e160

Abstract

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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, and amenorrhea, with the vast majority of patients with 17OHD are diagnosed in adolescence.Methods: We present a case of 17OHD diagnosed at the age of 50 with complete endocrinologic investigations and genetic analysis.Results: The patient had hypokalemia and a low cortisol level. Her dehydroepiandrosterone sulfate (DHEA-S) and androstenedione levels were undetectable, although her adrenocorticotropic hormone (ACTH) level was elevated. She had markedly elevated pregnenolone, progesterone, deoxycorticosterone, and corticosterone levels. In addition, her plasma renin activity and plasma aldosterone concentration were suppressed and elevated, respectively. Rapid ACTH stimulation increased the hormones upstream of 17 alpha-hydroxylase, and overnight 1-mg dexamethasone suppressed them. The patient was thus diagnosed with 17OHD. Genetic testing confirmed the diagnosis, revealing 2 distinct mutations in the CYP17A1 gene, c985_987delTACinsAA and R416C, which have been previously reported.Conclusion: The present case is a mild form of 17OHD that had gone undiagnosed until the age of 50. The R416C genotype seems to relate to a mild phenotype. Mild 17OHD may remain undiagnosed or be misdiagnosed as primary aldosteronism or idiopathic hyperaldosteronism.Abbreviations: ACTH adrenocorticotropic hormone 17OHD 17 alpha-hydroxylase/17,20-lyase deficiency Ms metabolites PAC plasma aldosterone concentration DHEA-S dehydroepiandrosterone sulfate

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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