Endocrine Abstracts

BackgroundPituitary apoplexy (PA) is a rare clinical syndrome, usually occurring in the pituitary adenoma due to a sudden bleeding and/or infarction. PA is usually seen in nonfunctional pituitary adenomas, but it can also be seen in ACTH secreting macroadenomas. The most common symptoms PA, which complicates 2 to 12% of pituitary adenomas, are severe and sudden headache, visual disturbances, or eye paralysis, and endocrinological abnormalities. PA is dia...

Adrenocorticotropic hormone (ACTH) adenomas causing Cushing’s disease (CD) have been recognized as an aggressive and invasive subtype of pituitary adenomas. Remission of CD without surgical or medical treatment is an extremely rare occurrence. Moreover, a clinically relevant peculiarity of these tumors, though rarely observed, is their ability to modify their clinical expression from a silent form to CD or vice versa, the latter even more unexpected. We describe the case ...

Kennedy’s Disease (KD) or Spinal and Bulbar Muscle Atrophy is a rare X-linked recessive condition due to CAG repeat in the androgen receptor (AR) gene. KD affects males with unaffected female carriers. Reported prevalence in male populations is highly variable; recent data suggests 2.5 in 100,000 with region specific higher prevalence. KD manifests as androgen insensitivity (AI) with features including gynaecomastia and motor signs such as early tremor, facial an...

The non-specific symptoms of Addison’s disease may be attributed to other conditions with consequent delay in diagnosis. We describe such a case of novel presentation. A 61 year old female presented with a one-day history of vomiting, abdominal pain and 15kg weight loss over 6 months. PMH: hypertension of 15 years duration, chronic kidney disease (CKD3) for 7 years and hysterectomy for endometrial carcinoma 8 years earlier. Examination: dehydrated, sinus tachycardia 110 b...

Background: Bloom’s syndrome is a rare autosomal recessive disorder due to chromosomal instability. It is associated with endocrinopathies such as growth deficiency, insulin resistance, type 2 diabetes, dyslipidemia and hypothyroidism. We present a case to highlight the challenges in management of diabetic emergencies in patients with complex syndromes.Case report: A 38-year-old male of Asian descent known to have Bloom’s syndrome presented to ...

32 year old female with no prior past medical problems presented to hospital with a two week history of rapid onset delusional psychosis with religious themes, paranoid ideas and rapidly developing into catatonia. There was no previous history of psychiatric disorders. On physical examination the Glasgow Coma Score (GCS) was 15 and she was responding to visual hallucinations; speaking to imaginary person and reported seeing objects. She was afebrile and bedside observations we...