Endocrine Abstracts

Introduction: It has been stimated that up to 30% of idiopathic Addison disease in young boys is due to X-linked Adrenoleukodystrophy. We report the case of a 31-year-old previously asymptomatic man, who presented with hyperpigmentation and fatigue. Investigations revealed hyponatraemia (116 mEq/l), low serum cortisol (2.6 μg/ml) and high ACTH levels (>2000 pc/ml), plasma potassium was 4.37 mEq/l. Adrenal antibodies were absent and abdominal computerized tomography sc...

Introduction: It has been estimated that 15–20% of FIPA families harbor an AIP gene mutation (AIPmut). To our knowledge ~50 sequence variants -pathological and otherwise- have been described to date. We report a new FIPA family with an extensive genealogy, in which 4 members have pituitary adenomas in the setting of a novel AIPmut.Patients and methods: The index patient is a 37-year-old man, who presented with childhood onset of somatotropinoma and ...