Endocrine Abstracts

Neurofibromatosis type 1 is an autosomal dominant genetic disorder that results from loss of function of the neurofibromin gene, leading to failure of a tumor suppressor mechanism. Usually characterized by ‘café-au-lait’ spots, cutaneous neurofibromas, and a predisposition for tumorigenesis occurring in childhood, NF1 can have variable clinical expression, with ‘mildly symptomatic’ cases eluding diagnosis until adulthood.A 53-yea...

Pheochromocytomas, tumors derived from adrenal medulla, are characterized by a polymorphic clinical picture dominated by paroxysmal hypertension. Between the clinical, laboratory and pathology data, discordances are frequently seen.Patients and Methods: Thirty five cases of pheochromocytoma and paraganglioma (10 men) with adrenal tumors and hypertension were confirmed with pheochromocytoma. They were aged 53.68±12.75 years (36–75), while the tu...

A 29-year-old female diagnosed 1.5 years ago with Graves’ disease, presented with severe thyrotoxicosis and a large, diffuse goiter after an attempt to taper the anti-thyroid medication. She had also noticed 4 days before presentation right arm mild paresis. The neurological exam confirmed the sensitive and motor deficit. Blood assays confirmed severe thyrotoxicosis (TSH <0.03 mUI/l, fT4=25.6 pmol/l, T3 >500 ng/dl), high levels of anti-thyroi...