Endocrine Abstracts

Introduction: Hypophosphatasia (HPP) is a rare genetic disease of very variable severity (from letal to mild). HPP results from APL gene mutations, which lead to a deficiency of tissue-nonspecifc alcaline phosphatase (TNAP), and accumulation of inorganic pyrophosphate, a potent inhibitor of mineralization that is also a natural substrate of TNAP in the extracelular space. HPP causes mineralization disorders including soft bones (rickets, osteomalacia, fractures) and defects in...

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 ...

Objective: To describe the clinical characteristics and post-surgical outcome of our primary hyperparathyroidism case series.Methods: A retrospective cohort study of primary hyperparathyroidism patients who underwent surgery in the last 10 years in our centre. The medical records were reviewed to extract data. A statistical descriptive analysis was performed using mean and S.D. for continuous variables and percentages for qualitative varia...

Introduction: Thyrotoxic periodic paralysis (TPP) is a complication of hyperthyroidism characterized by muscle paralysis and hypokalemia. It mainly affects male patients of Asian descent. Many patients do not have obvious symptoms and signs of hyperthyroidism, which makes its diagnosis difficult.Case report: A 47-year-old Asian man presented with all four limbs rapidly progressive muscular weakness that caused him inability to walk. He referred a previou...

Background: Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances, in particular from pre-diabetes and diabetes. Conflicting results currently exists on the relationship between vitamin D and glucose metabolism. Hence, the aim of our study was to investigate the association of 25-hydroxyvitamin D (25(OH)D) levels and glucose tolerance in PCOS women.Methods: Cross-sectional study including 23 PCOS patients (mean age 27 ...