Endocrine Abstracts

Introduction: Chest computed tomography imaging in patients with Covid-19 infection often reveals incidental adrenal lesions, which are subsequently investigated, after recession of the infection.

Purpose: Description of a pheochromocytoma that was accidentally diagnosed in a teenager, during her hospitalization with Covid-19.

Case description: A 17-year-old girl, who was diagnosed with covid-19 infection, by molecular testing 6 days before, arrived at the emergency department, with tachycardia and dyspnea, during the first wave of the pandemic. Due to hypocapnia and tachycardia (heart rate= 110’), she underwent CT angiography to rule out pulmonary embolism. A right adrenal lesion formation of 3 cm in diameter was incidentally discovered, which showed intense enrichment with the contrast medium. The patient reported no symptoms other than emotional instability observed by the parents in recent years, which was attributed to adolescence. The girl had no personal medical history and was not on any medication. Family history was also free, negative for neoplasia. The recovery of acute covid-19 disease was followed by a complete clinical and hormonal control. On physical examination, the patient appeared with normal somatic and pubertal growth (tanner stage 5). Regular menstruation was reported. Blood pressure was normal (101/78mmHg), with a heart rate of 102’. On further MRI imaging, the tumor showed a high signal in the T2 sequences and increased enrichment. Additionally, an ¹⁸F-FDG PET scan showed increased activity of the lesion (SUVmax of 21.5), with absence of other foci. The hormonal tests confirmed the diagnosis of pheochromocytoma with total metanephrines >3 times the upper normal limit. The posterior retroperitoneoscopic excision of the pheochromocytoma, after preparation of the patient with phenoxybenzamine, was uncomplicated. Histology confirmed the diagnosis of pheochromocytoma with a PASS score of zero. Genetic testing was negative for mutations in known genes associated with pheochromocytoma-paraganglioma. However, a mutation of unknown significance in the MSH6 gene (exon 4, p.K295R), which expresses a DNA mismatch-repair protein, and which is associated with Lynch syndrome, was detected in heterozygosity. The association of MSH6 gene mutations with pheochromocytoma has been reported in only 3 cases worldwide.

Conclusions: Owing to covid-19 infection, an early diagnosis and effective treatment of a potentially dangerous tumor was achieved. Furthermore, the extremely rare association of a mutation in a gene related to Lynch syndrome has also emerged, broadening the range of tumors attributed to these genes.