Zhang D, Sun JR, Xu J, Xing Y, Zheng M, Ye SD, Zhu J. 17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports . World J Clin Cases 2021; 9(8): 1923-1930 [PMID: 33748243 DOI: 10.12998/wjcc.v9.i8.1923]
Corresponding Author of This Article
Jie Zhu, MD, Doctor, Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, No. 17 Lujiang Road, Hefei 230001, Anhui Province, China. jiezhuaph@gmail.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Mar 16, 2021; 9(8): 1923-1930 Published online Mar 16, 2021. doi: 10.12998/wjcc.v9.i8.1923
17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
Dai Zhang, Jian-Ran Sun, Jiang Xu, Yan Xing, Mao Zheng, Shan-Dong Ye, Jie Zhu
Dai Zhang, Jian-Ran Sun, Jiang Xu, Mao Zheng, Shan-Dong Ye, Jie Zhu, Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, Anhui Province, China
Yan Xing, Department of Endocrinology, Endocrinology Laboratory of the First Affiliated Hospital of USTC, Hefei 230001, Anhui Province, China
Author contributions: Zhu J and Ye SD conceived and supervised the study; Xing Y, Zheng M, Xu J and Zhu J designed experiments; Zhang D and Xing Y performed experiments; Zhang D, Xu J and Sun JR analyzed data; Zhang D wrote the manuscript; Zhu J and Ye SD made manuscript revisions; all authors reviewed the results and approved the final version of the manuscript.
Supported byAnhui Province Central Guided Local Science and Technology Development Funding Project, No. 2017070802D147; and Anhui Province Key Clinical Specialist Construction Fund.
Informed consent statement: All patients provided informed consent for publication of the case.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Jie Zhu, MD, Doctor, Department of Endocrinology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, No. 17 Lujiang Road, Hefei 230001, Anhui Province, China. jiezhuaph@gmail.com
Received: October 12, 2020 Peer-review started: October 12, 2020 First decision: December 30, 2020 Revised: January 13, 2021 Accepted: January 28, 2021 Article in press: January 28, 2021 Published online: March 16, 2021 Processing time: 144 Days and 7.5 Hours
Abstract
BACKGROUND
p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals. However, data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking. This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.
CASE SUMMARY
Case 1 presented with hypertension, hypokalemia, sexual infantilism and delayed bone age. The patient had a 46, XY karyotype, was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn. Case 2 presented with hypokalemia, sexual infantilism, osteoporosis and delayed bone age. The patient had a 46, XY karyotype, was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up. Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2. Case 3 presented with amenorrhea, sexual infantilism, osteopenia and delayed bone age. The patient had a 46, XX karyotype, was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd. Outpatient follow-up revealed an adrenocorticotropic hormone (8 AM) of < 5.00 pg/mL.
CONCLUSION
The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency, and definitive diagnosis depends primarily on genetic testing.
Core Tip: 17-α-hydroxylase deficiency is a rare type of congenital adrenal hyperplasia. The clinical manifestations of 17-α-hydroxylase deficiency are hypo-reninemic hypertension, hypokalemia, male pseudohermaphroditism, female sexual infantilism and primary amenorrhea. The disease is caused by mutations in the gene encoding cytochrome P450c17 that lead to 17-α-hydroxylase/17,20 carbon chain lyase deficiency. The present study presents the data of three patients who were diagnosed with 17-α-hydroxylase deficiency that was caused by p.Tyr329fs homozygous mutation. These three cases suggest that the homozygous p.Tyr329fs mutation usually manifests as a combined deficiency and that the definite diagnosis depends on genetic testing.
