Endocrine Abstracts

Von Hippel-Lindau (VHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. Herein we describe, two families who had VHL. A 21-year-old man (index case 1) presented with bilateral adrenal mass, serendipitously discovered by radiologic examination. He had newly diagnosed arterial hypertension. His family history was significant for his mother who had operated for pheochromocytoma, his two uncles who had experienced cerebral tumors and his mother’s cousin who had bilateral pheochromocytoma. After the diagnosis of bilateral pheochromocytoma, bilateral adrenalectomy was performed. Histopathological data correlated with pheochromocytoma. A genetic test was carried out. A germline mutation p.R167Q (c.500G>A) was detected in the patient confirming VHL. A further genetic test was prescribed in other family members. His mother had a history of cystic astrocytoma, meningioma, hemangioblastoma and right adrenalectomy for pheochromocytoma. A germline mutation p.R167Q (c.500G>A) was detected, too. Index case 1’s brother had a history of arterial hypertension and the germline mutation p.R167Q (c.500G>A) was detected, too. Index case 1’s mother’s cousin had a 24-year history of hypertension. He had experienced right adrenalectomy 24 years ago and left adrenalectomy 4 years ago with the diagnosis of pheochromocytoma. The germline mutation p.R167Q (c.500G>A) was detected, too. A 43-year-old woman (index case 2) was referred from the cardiology department to our outpatient clinic to examine the etiology of endocrine-induced arterial hypertension (150/90 mmhg). After the diagnosis of pheochromocytoma, the right adrenalectomy was performed. 5 years after the operation she had operated for the pancreatic neuroendocrine tumor and 15 years after the operation she was diagnosed as hemangioblastoma. A genetic test was carried out. A germline mutation p.L118R was detected in the patient. A genetic test was prescribed to the other members of the family. Her two boy’s genetic tests were detected the same mutation. All patients with pheochromocytomas should be screened for the genetic syndromes for example MEN 2 and VHL. It is important for averting the further morbidity and mortality in the patients and their families. Family screening is crucial in patients who are diagnosed with the disease.