Endocrine Abstracts

IntroductionThyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by the sudden onset of hypokalemia and muscle paralysis. This rare but possible clinical presentation of thyrotoxicosis is significantly more predominant in males of asian descent. The mechanisms of hypokalemia are incompletely understood. The prevailing theories include increased Na-K ATPase pump activity and mutations in genes encoding Kir channels i...

A 14 year-old Turkish boy sought advice for growth retardation. Pituitary insufficiency with GH, TSH, ACTH and gonadotrophin defect was diagnosed and treated. He was born from a consanguineous family and was married at 24. Three years later he consulted wishing to father a child. He was treated with levothyroxine 150 μg, hGH 0,5 mg/day, hydrocortisone 20 mg/day and was switched from testosterone enantate to hCG+FSH. Azoospermia was initially found and oligospermia after t...

Introduction: ACTH-independent macronodular adrenal hyperplasia (AIMAH) is often an incidental finding, but may be diagnosed in patients with Cushing’s syndrome. We have recently identified germline mutations in the armadillo repeat containing 5 gene (ARMC5) in AIMAH patients, associated with somatic second hits specific of each AIMAH nodule ( Assié et al, NEJM, 2013). The aim is to characterize the prevalence of ARMC5 mutations in AIMAH patients and the gen...