Endocrine Abstracts

Trisomy 18, or Edwards syndrome, is a chromosomal disorder, due to the presence of a supernumerary chromosome 18. Worldwide, it is estimated to have a prevalence of 1/6000 live births, of which the most affected are female. Infants with trisomy 18 have a high mortality rate, secondary to the lethal malformations associated with this syndrome. The objective of this study is to describe the clinical and cytogenetic characteristics of these patients and to demonstrate the value o...

Pro-inflammatory cytokines activate the hypothalamic pituitary adrenal (HPA) axis but chronic inflammatory diseases such as Rheumatoid Arthritis (RA) do not. The axis is subtly subnormal despite nocturnal cytokine peaks. This poses the question ‘Why does the endocrine dog not bark in the cytokine night?’. Is this chronic stress adaptation similar to that seen with restraint when the normotypic stressor is reduced with decreased parvocellular CRH mRNA, a compensatory ...

Introduction: Hypogonadism is prevalent in older men and associated with various comorbidities. Despite this, it is underdiagnosed and undertreated.Aim: To identify factors associated with underdiagnosis and undertreatment of male hypogonadism.Methods: Quantitative, questionnaire-based, online survey conducted in the UK among men aged ≧40 years with hypogonadism confirmed by blood test (n=101, from N=3 871 ...

Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant inherited disorders causing non-insulin-dependent diabetes. MODY is the most common form of monogenic diabetes, accounting for 1-2 % of diabetes in Europe; however it is often misdiagnosed as Type 1 or 2 Diabetes. MODY is caused mainly by mutations in the GCK, HNF1A or HNF4A genes, the two former accounting for 70% of all cases. A molecular genetic diagnosis is important as it can directly alter patie...

We present a case of a 76-year-old Caucasian woman with combined primary hypoparathyroidism and vitamin D deficiency resulting in life-threatening hypocalcaemia.She has a history of COPD and initially presented in 2002 with an exacerbation of her airways disease. During treatment for her condition an incidental note was made of hypocalcaemia (calcium 1.62 mmol/l). PTH was minimally elevated at the time but 25-hydroxycholecalciferol was low (4.2 ng/ml). S...

QLS-H is a new, weighted QoL questionnaire developed for patients with hypopituitarism. We evaluated QLS-H data from UK patients in the HypoCCs International surveillance study, and compared results with a sample of the general UK population (n=1090).The QLS-H questionnaire was administered at baseline and at yearly intervals. Scores were corrected for age and gender differences, and expressed as Z-scores based on UK-specific reference ranges. Using this...

Aim: Diabetes is the most common metabolic disorder in the UK, affecting 20–30% of vascular inpatients. Diabetes is associated with increased mortality and adverse outcomes. Major vascular operations accompany an increased incidence of metabolic complications. There are trust guidelines outlining the optimal peri-operative management of diabetes. We audited compliance to this guideline in patients undergoing major vascular operations and measured patient outcomes.<p c...

Case presentation: A 40-year-old Caribbean woman presented with sudden onset palpitations. She described 3 months of progressive shortness of breath, non-productive cough and 7kg weight loss. She denied chest pain, fevers or night sweats, but reported increased stool frequency, gritty eyes, and occasional visual blurring. She appeared cachectic and had a fine tremor, left eye proptosis and a visible pulsatile goitre. She was afebrile, tachypnoeic, hypoxic, hypotensive with fas...

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