Endocrine Abstracts

Introduction: Hirata disease (or Insulin autoimmune syndrome) is characterized by the presence of high concentrations of insulin autoantibodies leading to hyperinsulinemic hypoglycemia in individuals with no history of prior exposure to exogenous insulin. Etiopathogenesis is not completely elucidated, it’s considered to result from the interaction of genetic predisposition and environmental triggers such as: medications (methimazole, carbimazole, alpha-lipoic acid, captop...

Introduction: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by the presence of phosphaturic hormone-secreting mesenchymal tumors - fibroblast growth factor 23 (FGF-23), which causes hypophosphatemia and osteomalacia. These tumors are small, frequently infiltrate the surrounding tissues and are located in the connective or bone tissue. Usually, these tumors are benign, but malignant tumors have also been reported.Case report: ...

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the ...

Introduction: Pituitary gigantism is a rare disorder characterized by growth hormone (GH) excess that occurs before epiphyseal growth plates fusion leading to rapid and excessive linear growth in childhood and very tall adult stature. It can be sporadic or coexist with genetic disorders such as FIPA, X-LAG, McCune-Albright, Carney complex, MEN 1 or 4, and Neurofibromatosis type 1.Case report: We present a case of a 12 years old boy with no medical histor...

Background: Metabolomics profiling of bio-fluids suggests altered signatures in patients with the polycystic ovary syndrome (PCOS).Subjects and methods: A high-performance liquid chromatography/time-of-flight mass spectrometry (HPLC/TOF-MS)-based metabolomics approach was developed to characterize the untargeted lipidomics signature associated with PCOS status in a discovery cohort of 30 plasma samples (15 PCOS, 15 controls, age-matched), followed in a s...