ABSTRACT
OBJECTIVE@#To report the clinical and genetic characteristics of a rare case of Gitelman syndrome with comorbid Graves disease and ACTH-independent adrenocortical adenoma.@*METHODS@#A patient who had presented at the Nanchong Central Hospital on December 21, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole-exome sequencing was carried out on DNA extracted from peripheral venous blood samples from the patient and her family members.@*RESULTS@#The patient, a 45-year-old woman, was found to have Graves disease, ACTH-independent Cushing syndrome, hypokalemia and hypomagnesemia following the discovery of an adrenal incidentaloma. MRI scan had revealed a 3.8 cm × 3.2 cm mass in the left adrenal gland. The mass was removed by surgery and confirmed as adrenocortical adenoma. DNA sequencing revealed that the patient and her sister have both harbored compound heterozygous variants of the SLC12A3 gene, namely c.1444-10(IVS11)G>A and c.179(exon1)C>T (p.T60M), which were respectively inherited from their father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1444-10(IVS11)G>A and c.179(exon1)C>T (p.T60M) were respectively classified as a variant of uncertain significance (PM2_Supporting+PP3) and a likely pathogenic variant (PM3_Strong+PM1+PP3).@*CONCLUSION@#The conjunction of Gitelman syndrome with Graves disease and adrenal cortex adenoma is rather rare. The newly discovered c.1444-10(IVS11)G>A variant of the SLC12A3 gene, together with the heterozygous variant of c.179(exon1)C>T (p.T60M), probably underlay the pathogenesis in this patient.
Subject(s)
Humans , Female , Middle Aged , Gitelman Syndrome/genetics , Adrenocortical Adenoma , Hypokalemia , Graves Disease/genetics , Mothers , Mutation , Solute Carrier Family 12, Member 3ABSTRACT
The incidence rate of thyroid cancer is very high with the first place of the incidence in the whole endocrine system of malignant tumors,and about 1％ from the incidence of systemic malignant tumors.Thyroid carcinoma is mainly divided into four types:papillary thyroid carcinoma,medullary thyroid carcinoma,undifferentiated thyroid carcinoma,and follicular thyroid carcinoma.Recently,the effect of autophagy on the incidence of thyroid cancer as well as the role of macrophages in the treatment of thyroid cancer has become a hot research.Here,a brief review will be carried out on the relationship between autophagy and thyroid cancer.