Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2022; 10(26): 9390-9397
Published online Sep 16, 2022. doi: 10.12998/wjcc.v10.i26.9390
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report
Yan-Jun Wang, Cong Liu, Chuan Xing, Le Zhang, Wan-Feng Xu, Hai-Ying Wang, Fu-Tao Wang
Yan-Jun Wang, Cong Liu, Chuan Xing, Le Zhang, Wan-Feng Xu, Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Hai-Ying Wang, Department of Endocrinology, the Second Hospital of Chaoyang, Chaoyang 110000, Liaoning Province, China
Fu-Tao Wang, Department of Endocrinology, Changchun Central Hospital, Changchun 110000, Jilin Province, China
Author contributions: Wang YJ wrote and reviewed the manuscript; Liu C reviewed the manuscript; Xing C collected clinical data; Zhang L and Xu WF attended the patient; Wang HY and Wang FT made tables and figures; all authors have read and approved the final manuscript.
Informed consent statement: A written informed consent was obtained from the patient for publication of this case report.
Conflict-of-interest statement: The authors have nothing to disclose.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yan-Jun Wang, PhD, Doctor, Department of Endocrinology, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, Liaoning Province, China. wangyjsy@163.com
Received: April 8, 2022
Peer-review started: April 8, 2022
First decision: May 31, 2022
Revised: June 3, 2022
Accepted: August 5, 2022
Article in press: August 5, 2022
Published online: September 16, 2022
Processing time: 146 Days and 23.7 Hours
Abstract
BACKGROUND

Congenital adrenal hyperplasia (CAH), which is caused by a mutation of the steroidogenic acute regulatory (StAR) gene. Affected patients are usually characterized by adrenal insufficiency in the first year of life, salt loss, glucocorticoid and mineralocorticoid deficiency, and female external genitalia, regardless of chromosomal karyotype. Patients with non-classical lipoid CAH usually develop glucocorticoid deficiency and mild mineralocorticoid deficiency at 2-4 years of age.

CASE SUMMARY

Herein, We report the case of a woman with non-classic lipoid CAH combined with Graves' disease. Her chromosome karyotype was 46, XX, and high-throughput sequencing revealed two missense variants in the StAR gene: c.229C > T (p.Q77X) and c.814C > T (p.R272C), which were inherited from both parents (non-close relatives). The patient was treated for Graves' disease in a timely manner and the dosage of glucocorticoid was adjusted during the treatment of Graves' disease.

CONCLUSION

This is the first case of non-classic lipoid CAH combined with Graves' disease reported in the Chinese population. In addition to conventional glucocorticoid replacement therapy, timely adjustments were made to the dosages of thyroid hormone and glucocorticoid to avoid adrenal crisis as a consequence of the increased demand and accelerated metabolism of glucocorticoids when the patient was diagnosed with Graves' disease.

Keywords: Lipoid congenital adrenal hyperplasia; Steroidogenic acute regulatory protein; Adrenal insufficiency; Graves' disease; Case report

Core Tip: Congenital lipoid adrenal hyperplasia (CAH) is the most severe form of CAH, which is caused by a mutation of the steroidogenic acute regulatory gene. This report describes the case of a 24-year-old woman with non-classic lipoid CAH combined with Graves' disease, which is the first of its kind in China. Additionally, the symptoms, presentation, and treatment of the comorbid condition have also been described. We believe that our study makes a significant contribution to the literature because it is an extremely rare case and, in this report, the clinical characteristics are comprehensively reported. Additionally, we provide guidance on how such a case could be effectively treated.