Endocrine Abstracts

Metabolic alterations have long been known to occur in the transition to prostate cancer, from alterations in central metabolism to lipid metabolism and local steroid biosynthesis. However the upstream events that lead to these alterations have not been comprehensively assessed. In this presentation I will draw together genomic, epigenomic and transcriptomic analysis, together with metabolic profiling. Overlaying the effects of androgen signaling on these pathways and metaboli...

Background: The prevalence of diabetes has reached epidemic proportions and according to the World Health Organisation (WHO) more than 220 million people worldwide have diabetes. The main complication in insulin-dependent diabetes mellitus (IDDM) patients is hypoglycaemia, with approximately 90% of all IDDM patients having experienced a hypoglycaemic episode. Hypoglycaemia has a substantial clinical impact in terms of mortality, morbidity and quality of life.<p class="abst...

Case: A 38-year-old HIV positive lady presented with a neck swelling and neutropenic sepsis. Examination of the neck revealed a firm diffuse non-tender goitre with cervical lymphadenopathy. She also had generalised lymphadenopathy, splenomegaly and miliary opacities in the lungs on the chest radiograph. Disseminated cryptococcal infection was diagnosed following isolation of the organism in blood and bone marrow. A radioisotope scan of the thyroid showed no uptake in the right...

Introduction: A new Regional Paediatric Endocrine Service was established in 1993 which implemented a protocol for Congenital Hypothyroidism (CH) management. Its aim is to confirm the diagnosis, establish aetiology and start treatment within 48 hours after the result of the screening test.Objective: To audit the results of this protocol.Methods: Case note and laboratory data review for all Neonates referred since 1993 after a posit...

Case history: A 62 years old lady presented with a history of weight loss, sweating, and tremor for 3 months. The diagnosis of thyrotoxicosis was made following biochemical confirmation and she was started on carbimazole 20 mg twice a day. Several weeks later she got admitted with progressive shortness of breath, hoarseness of voice, and a painful neck lump. Examination revealed a firm to hard fixed multinodular goiter with a dominant hard nodule at the left upper pole. There ...

A 27 year old, Caucasian female was admitted with vomiting and found to have severe hypocalcaemia. On clinical examination she had a normal stature, oval face; she was not brachydactylic and did not have dental hypoplasia. Biochemically she had serum Ca of 1.49 mmol/l (2.15–2.50), a high serum Phosphate of 1.50 mmol/l (0.9–1.45) and Vitamin D levels of 59 nmol/l (>50 sufficient for majority population). Her serum parathyroid hormone was elevated at 304.5 ng/l (15...

Background: IgG4-related disease is a rare immune-mediated inflammatory condition associated with extensive multi-organ involvement. Little is known about the epidemiology of pituitary involvement as a part the IgG4-related disease spectrum.Objectives: We aimed to identify patients with pituitary involvement amongst those with systemic IgG4-related disease, and to compare these individuals to patients with isolated ...

Background: IgG4-related disease is a rare immune-mediated inflammatory condition associated with extensive multi-organ involvement. Little is known about the epidemiology of pituitary involvement as a part the IgG4-related disease spectrum.Objectives: We aimed to identify patients with pituitary involvement amongst those with systemic IgG4-related disease, and to compare these individuals to patients with isolated ...

Objective: Based on recommendations from the Clinical Practice Guidelines committee group on management of adrenal incidentalomas our project aims to review whether patients found to have adrenal incidentalomas were managed as per recommendations of the committee as follows: If they had a 1 mg overnight dexamethasone suppression test,were they tested for phaeochromocytoma, whether the investigations were used judiciously keeping in view patients co-morbid state, were any of th...

Background: Three 5α-reductase (5α-R1-3) isoenzymes are described. In humans, 5α-R2 deficiency (5α-R2D) causes pseudohermaphroditism and 5α-R3 neurological defects. The role of 5α-R1 is not clear. Urine steroid profiling (USP) by GC–MS can compare 5α-reduction activity based on excretion of 5α- and 5β-reduced metabolite ratios. Finasteride predominantly inhibits 5α-R2. USP in these patients shows concordance with 5α-R...