Endocrine Abstracts

Background: Assessment of hypothalamic–pituitary adrenal axis in patients with schizophrenia is complex, as it involves both the disease process and antipsychotic medications. We present a case of a patient on long term clozapine with a concomitant pituitary adenoma who presented discordant responses to adrenal stimulation.Case: A 38-year old male was referred with chronic symptoms of reduced libido and associated low testosterone levels. He was tre...

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...