Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of enzymatic defects in cortisol biosynthesis resulting in adrenal hyperplasia through chronic compensatory ACTH stimulation. Aldosterone synthase deficiency, however, is associated with normal cortisol secretion and there are no reports on whether it may be associated with adrenocortical hyperplasia.Case Presentation: A 37-year-old, Greek female was referred for further investigation...

Introduction: Cushing’s disease (CD) is associated with significant morbidity and mortality due to cerebro-cardiovascular, thrombotic or infectious complications. However, there is significant variation in the clinical presentation and consequences of hypercortisolism, resulting in a wide clinical spectrum, ranging from mild to severe or even life-threatening disease requiring immediate treatment.Aim: The description of patients with severe CD in c...

Background: An increasing number of mutations are associated with pheochromocytomas. Genetic screening is advocated in all cases and immunohistochemistry as well as phenotype profile recognition may permit a more targeted screening for specific genes.Case Presentation: A 54-year-old male presented with symptoms compatible with pheochromocytoma and increased levels of plasma normetanephrines, metanephrines and 3-methoxytyramine. On Computed Tomography, th...