Endocrine Abstracts

55-year-old man referred to the medical assessment unit by GP with weight loss and tachycardia. His past medical history was significant for myocarditis, long-QT syndrome, out of hospital cardiac arrest and an in-situ ICD. On examination the patient was tremulous, sweaty and tachycardic but otherwise well. An ECG demonstrated sinus tachycardia and routine blood tests were unremarkable. A clinical diagnosis of thyrotoxicosis was made and confirmed biochemically with TSH<0.0...

TSH-secreting pituitary adenomas (TSHomas) are rare. Previously, the reported prevalence was one case per million populations although this is probably an underestimate. A recently published study reported a prevalence of TSHomas in Sweden of 2.8/million inhabitants.Methods/design: Observational study conducted in four tertiary referral centres in Ireland. We retrospectively collected data on the prevalence, demographics, hormonal profile, tumour charact...

Acromegaly is a rare condition resulting from excess secretion of GH and IGF1. Acromegaly is frequently associated with subfertility. As such there is little data on the course of the disease during pregnancy, and of the effects of the disease and its treatments on the foetus.Objective: We describe known pregnancies in women with acromegaly within the Republic of Ireland over a 15-year period.Methods: We collected clinical, biochem...

Introduction: Immune mediated cases of severe insulin resistant diabetes are very rare. We report responses to immunosuppression with rituximab in two patients.Case 1: A 31 year old black African female, BMI 22.84 kg/m², was referred with new onset diabetes, diagnosed shortly following a miscarriage. She had weight loss, acanthosis nigricans, nocturnal hypoglycaemia and severe hyperandrogenism . She was on an insulin pump and required >1000 units in...

The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. To date, comparable studies of PPAR alpha have not been reported. Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. Twenty-nine PPARA missense variants were detected (allelic ...