Published online Sep 16, 2022. doi: 10.12998/wjcc.v10.i26.9390
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
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.
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.
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.
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.