Endocrine Abstracts

Background: Triple A Syndrome is a rare, autosomal recessive cause of adrenal failure that usually manifests in the first decade. Most cases have isolated glucocorticoid deficiency, but this is accompanied by mineralocorticoid deficiency in approximately 10% of cases. Additional features include alacrima (~90%), achalasia of the oesophageal cardia (~75%), and a progressive neurodegenerative process (~60%). The AAAS gene product is the nuclear pore complex protein ALADIN...

Introduction: Central hypothyroidism is frequently seen after pituitary surgery, radiation therapy or head injury. We present a case of silent thyroiditis in a patient with secondary hypothyroidism. Case Description A 24 year old woman complained of tiredness during her periodic review in the endocrine clinic. Her endocrine history included surgery for craniopharyngioma at the age of 3 years and subsequent hypopituitarism with growth hormone, ACTH deficiency, diabetes insipidu...

Introduction: Triple A syndrome is a rare, autosomal recessive cause of adrenal failure that usually manifests in the first decade. Most cases have isolated glucocorticoid deficiency, but this is accompanied by mineralocorticoid deficiency in ~10%. Additional features include alacrima (~90%), achalasia of the oesophageal cardia (~75%), and a progressive neurodegenerative process (~60%). The AAAS gene product is the nuclear pore complex protein ALADIN of unknown function...

Introduction: Carcinoid tumours commonly originate from the gastrointestinal tract. Cardiac manifestations occur in 10–41% of patients with carcinoid syndrome, usually associated with liver metastases. We report an atypical case of a carcinoid tumour associated with right sided heart disease without distant metastases.Case description: A 75-year-old lady with no significant past medical history and a lifelong non-smoker, was admitted with 3 months h...

Chronic pancreatitis (CP) may lead to deficiency of fat soluble vitamins such as vitamin D; little is known of the extent of this in chronic pancreatitics.In order to assess the extent and severity of vitamin D deficiency in CP we examined the notes of 111 patients with CP. In addition to clinical information and calcium, vitamin D and PTH levels, exocrine function was evaluated using the PABA test to obtain a pancreatic excretion index (PEI: normal &#62...

Aim: To determine the prevalence of vitamin D insufficiency in Asian patients with type 2 diabetes and to determine the most appropriate screening investigations.Introduction: The high prevalence of vitamin D deficiency and type 2 diabetes in the Asian community is well recognised. Vitamin D insufficiency (levels < 50 nmol/l) is associated with impaired insulin secretion and increased insulin resistance. The prevalence of Vitamin D insufficiency in p...

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

Introduction: Phaeochromocytomas commonly present with episodes of sweating, palpitations, and hypertension. Urinary catecholamines measurement is the most common screening test for suspected phaeochromocytoma in the UK. We report a series of three cases in which the reason for hypertension and raised catecholamines was not a phaeochromocytoma and treating the underlying condition corrected the clinical and biochemical abnormality.Cases: Three patients w...

Von-Hippel Lindau syndrome (VHL) is a familial disorder presenting in children with a range of different neoplasia. A paediatric screening protocol was published in 2000 and has now been applied to patients in our centre. Screening for VHL is multi-disciplinary involving clinical, biochemical, and radiological investigations.Methods: Data was collected between 2000 and 2007 in 14 children on compliance with screening and identification of pathological le...

A32 year old lady was admitted with symptoms of palpitations, tremors, insomnia, heat intolerance, weight loss and excessive perspiration for 4 weeks. Worsening of these symptoms with vomiting prompted the admission. She had similar episode 7 yrs ago following the birth of her child when a provisional diagnosis of postpartum thyrotoxicosis was made but lost follow up with in 2 weeks. She works as a carer looking after mentally handicapped children. Her mother suffers from hypo...