RESUMO
PTH resistance is characterized by hypocalcemia and hyperphosphatemia in the presence of elevated PTH concentrations, resulting in pseudohypoparathyroidism, which is subdivided into different types according to its different pathogenesis and phenotype. PTH receptor is the alpha subunit of stimulatory G protein (Gsα)-coupled receptor. Pathogenic variants of GNAS gene, encoding for Gsα, lead to reduced Gsα function and PTH resistance. We report a patient with PHP type 1a, with no documented evidence of hypocalcemia, presenting with AHO phenotype and multihormone resistance to PTH, TSH, and GnRH. Her genetic testing showed a novel heterozygous pathogenic variants, a c.934T > G change in exon 11 in adenylate cyclase stimulatory G protein that has not been reported in the literature so far.
RESUMO
Lemierre's syndrome is a condition when an oropharyngeal infection, typically from Fusobacterium necrophorum, causes thrombophlebitis of the internal jugular vein. There have been few case reports of Lemierre's syndrome affecting the external jugular vein, but to our knowledge, this is the first case report where COVID-19 infection is the prime suspect for causing this syndrome. SARS-CoV-2 infection, known to cause hypercoagulability and immunosuppression, increases the risk of deep venous thrombosis and secondary infections. We report a case of a young male with no known risk factors who developed Lemierre's syndrome as a complication of COVID infection.