A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism-Reference-Cited by-同舟云学术

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A Case of 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism

Published:2024 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Ikeya Akira¹²,Yamashita Miho³,Kakizawa Keisuke¹,Kawauchi Yuto¹,Matsushita Akio¹,Fujisawa Yasuko⁴,Ogata Tsutomu⁴⁵,Sasaki Shigekazu¹⁶

Affiliation:

1. 2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan

2. Department of Internal Medicine, Futagawa Hospital, Japan

3. International Center, Hamamatsu University School of Medicine, Japan

4. Department of Pediatrics, Hamamatsu University School of Medicine, Japan

5. Department of Biochemistry, Hamamatsu University School of Medicine, Japan

6. Department of Diabetes and Endocrinology, Nagoya City University Mirai Kousei Hospital, Japan

Publisher

Japanese Society of Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_3084-23/_pdf

Reference19 articles.

1. 1. Richard J Auchus. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol Jan 165: 71-78, 2017. Epub 2016 Feb 6.

2. 2. Yang J, Cui B, Sun S, et al. Phenotype-genotype correlation in eight chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. J Clin Endocrinol Metab 91: 3619-3625, 2006.

3. 3. Costa-Santos M, Kater CE, Auchus RJ. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17- hydroxylase deficiency. J Clin Endocrinol Metab 89: 49-60, 2004.

4. 4. Kardelen AD, Toksoy G, Baş F, et al. A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations. J Clin Res Pediatr Endocrinol 10: 206-215, 2018.

5. 5. Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin N Am 30: 101-119, 2001.

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