Endocrine Abstracts

Alemtuzumab is a monoclonal antibody directed against CD52 licenced for the treatment of relapsing remitting multiple sclerosis (MS). Thyroid dysfunction occurs in one third of patients, likely secondary to lymphocyte reconstitution.Case 1: A 36 year old female, treated with alemtuzumab 15 months prior, presented to antenatal clinic at 12 weeks gestation with symptoms of thyrotoxicosis. fT4 was 83.7 pmol/l (RR 12-22), TSH suppressed, TRAB positive. She w...

Phaeochromocytoma is a rare neuroendocrine tumour. Incidence has been quoted at two to eight cases per million people. This study reviews all cases of surgically resected phaeochromocytoma in a large tertiary referral centre since 1996 with particular focus on preoperative care. 22 patients were diagnosed with Phaeochromocytoma with average age at diagnosis of 47 years. 13.6% (n=3) of patients had malignant phaeochromocytoma. Two patients had confirmed neurofibromatos...

Background: Maternally inherited diabetes and deafness (MIDD) is a rare disease affecting approximately 1% of all diabetics. The most common mutation involved is a single base mutation (A-G) at position 3243 within the tRNALEU(UUR) gene. The clinical characteristics normally associated with this disease include sensorineural hearing loss, macular pattern dystrophy, cardiomyopathy, and diabetes. This study aims to identify clinical phenotype and insulin secretory res...

Objective: HNF1A gene mutations are the most common cause of monogenic diabetes. Patients with HNF1A–MODY display sensitivity to sulphonylurea therapy, however the long term efficacy has yet to be established. There is also limited literature as to the prevalence of complications in this unique cohort. The aim of the study was to determine the natural progression of HNF1A–MODY diabetes in a dedicated MODY clinic.Design: n=60 H...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterised by ACTH resistance and isolated glucocorticoid deficiency. Mutations of ACTH receptor, known as melanocortin-2 receptor (MC2R), and melanocortin-2 receptor accessory protein (MRAP) account for approximately 25 and 15 to 20% of cases respectively. To date there is no strong evidence that heterozygous carriers have abnormal cortisol secretion.Case: We...

Background: HNF1β mutations are one of the commonly identified genetic causes of renal malformations, but one of the less common forms of MODY. HNF1β is involved in the development of kidneys, liver, pancreas, intestine and urogenital tract. Patients can present with distinctive but highly variable clinical features. The aim of this study is to evaluate the clinical, biochemical and radiological variability of HNF1β variants and the challenge of management on th...

Gestational Diabetes Mellitus (GDM) is characterized by insulin resistance accompanied byreduced beta-cell compensation to increased insulin demand, typically observed in the secondand third trimester and associated with adverse pregnancy outcomes. There is a need for abiomarker that can accurately diagnose GDM, predict onset and accurately monitor status, reducing foetal-maternal morbidity and mortality risks. To this end, circulating microRNAs(miRNAs) present themselves as p...