ABSTRACT
Context: We assessed the association between the severity of COVID-19 and the thyroid function, and the relationship of thyroid hormones with inflammatory markers in COVID-19 patients. Subjects and methods: This observational study contained 95 COVID-19 patients. The covariates of interest included the thyroid-stimulating hormone (TSH) and the total form of thyroid hormones thyroxine and triiodothyronine. Furthermore, the inflammatory markers including C-reactive protein, erythrocyte sedimentation rate, lactate dehydrogenase (LDH), and lymphocyte were measured. To analyze the data, the t-test, the nonparametric test for comparing the medians, and the Spearman correlation were used. Results: The median (interquartile range) of ages was equal to 53 (41-66) years old, including 54 men (56.8%). As the severity of COVID-19 progressed from moderate to severe, increasing, though non-significant, trends of thyroid dysfunction were observed, the most remarkable for TSH. The only significant association between thyroid hormones and inflammatory markers was a Spearman correlation of -0.28 between TSH and LDH. Moreover, a direct association was found between the severity of COVID-19 and the LDH levels (p-value<0.001). Conclusions: A direct relation between the severity of COVID-19 and the LDH level and a reverse association between the LDH level and the thyroid hormone, TSH was obtained.
ABSTRACT
AIM: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family. PATIENTS AND METHODS: Four generations of a family with HFTC were studied for understanding the genetic pattern of the disease. Whole exome sequencing was applied on genomic DNA of the proband. Based on its result, genetically altered sequences were checked in his family through sanger sequencing. Then bioinformatics approaches as well as co-segregation analysis were applied to validate the genetic alteration. RESULTS: A novel homozygous variant in exon four of GALNT3, namely p.R261Q was found. The parents and sister were carriers. CONCLUSION: To our knowledge, it is the first-reported Iranian family with GALNT3-CDG novel variant.
