Endocrine Abstracts

Introduction: Adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (CS) secondary to an ectopic source is an uncommon condition, accounting for 4-5% of all cases of CS and between 9-18% of cases of ACTH-dependent CS. Although numerous malignancies have been associated with ectopic ACTH syndrome (EAS), lung neuroendocrine tumours (NETs) are the most common. Refractory hypokalemia can be the presenting feature in EAS and is seen in up to 80% of cases. We present ...

Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-u...