• Yan Qiao, Jinghong Zhao, Ji Wu, Lewei Cao, Guiqin Song, and Jingxin Mao.
• Department of Endocrinology, Nanchong Central Hospital, The Second Clinical College, North Sichuan Medical College, Nanchong, China.
• Medicine (Baltimore). 2024 Apr 12; 103 (15): e37770e37770.

RationaleGitelman syndrome (GS), also known as familial hypokalemia and hypomagnesemia, is a rare autosomal recessive inherited disease caused by primary renal desalinization caused by impaired reabsorption of sodium and chloride ions in the distal renal tubules. We report a case of clinical and genetic characteristics of GS accompanied with Graves disease and adrenocorticotrophic hormone (ACTH)-independent adrenocortical adenoma.Patient ConcernsThe patient is a 45 year old female, was admitted to our hospital, due to a left adrenal gland occupying lesion as the chief complaint.DiagnosisThe patient was finally diagnosed as GS with Graves disease and adrenocortical adenoma.InterventionsPotassium magnesium aspartate (1788 mg/d, taken orally 3 times a day (supplement a few times a day, intake method, treatment duration). Contains 217.2 mg of potassium and 70.8 mg of magnesium, and potassium chloride (4.5 g/d, taken orally 3 times a day (supplement a few times a day, intake method, and treatment duration); Potassium 2356 mg), spironolactone (20 mg/d, taken orally once a day (supplement a few times a day, intake method, treatment duration). After 3 months of treatment, the patient's blood potassium fluctuated between 3.3-3.6 mmol/L, and blood magnesium fluctuated between 0.5-0.7 mmol/L, indicating a relief of fatigue symptoms.OutcomesOn the day 6 of hospitalization, the symptoms of dizziness, limb fatigue, fatigue and pain were completely relieved on patient. In the follow-up of the following year, no recurrence of the condition was found.LessonsThe novel c.1444-10(IVS11)G > A variation may be a splicing mutation. The compound heterozygous mutations of the SLC12A3 gene may be the pathogenic cause of this GS pedigree.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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