Searchable abstracts of presentations at key conferences in endocrinology

ea0019s45 | Kisspeptin: a novel regulator of puberty and fertility | SFEBES2009

What does kisspeptin do in humans?

Dhillo W S

Kisspeptin, the endogenous ligand of the GPR54 receptor, is a key regulator of reproduction. Inactivating mutations of the GPR54 receptor in mice and humans is associated with a failure of reproductive function. Activating mutations in the GPR54 receptor result in precocious puberty. The endogenous neuropeptide agonist for GPR54, kisspeptin, potently stimulates release of gonadotrophins in rodents and primates.Objective: We determined the effects of elev...

ea0019s68 | Thyroid disease | SFEBES2009

Raised TSH: hypothyroidism, poor compliance or what?

Sharma S , Qureshi A

A 67-year-old woman was diagnosed by her GP with hypothyroidism and referred to our department. During the first 2 years after diagnosis, the TSH remained elevated (16–19 mlU/l) with the free T4 ranging 11.1–31.9 pmol/l despite her insistence that compliance with therapy was good and on incremental doses of thyroxine. When seen in the nurse-led thyroid clinic for the first time, concerns were raised to the consultant endocrinologist. Interference with the TSH assay w...

ea0019p28 | Clinical practice/governance and case reports | SFEBES2009

Hyperglycaemia in a patient with pheochromocytoma

Cho L , Atkin S

A 63-year old woman presented with a 3 weeks history of sweating, panic attacks and vomiting. Urine dipstick on admission was positive for glucose (3+) and ketones (2+) and lab glucose was elevated at 26 mmol/l. Based on the findings she was treated as diabetic ketoacidosis and commenced on insulin. Further investigations showed an elevated urinary catecholamines and marked hypercalcaemia (adjusted calcium 3.10 mmol/l) with unsuppressed PTH at 71 pg/ml (normal 12–72 pg/ml...

ea0019p148 | Diabetes, Metabolism and Cardiovascular | SFEBES2009

Extreme hypertriglyceridaemia, the therapeutic use of insulin

Naziat A , Chandran S , Ali A

We present a case of a 44-year-old chef, presenting with a fortnight’s history of a pruritic rash over his trunk and axillae. He was diagnosed to have hypertension, which was treated by lifestyle interventions. His diet was poor, and he drank 40 units of alcohol per week. His parents had hypercholesterolemia, but there was no history of premature coronary artery disease. On examination, his BMI was 31.62 kg/m2, and he had eruptive xanthomata on his chest, abdom...

ea0019p193 | Endocrine tumours and neoplasia | SFEBES2009

Von Hippel Lindau syndrome: a case report

Kearney T , Farook S

In 1976, aged twenty, Mr A J was diagnosed with a cerebral haemangioblastoma, which was successfully removed. His father died from renal cell carcinoma and a Pheochromocytoma, raising the possibility of VHL syndrome. Genetic screening was positive but no follow-up was provided.In 2004, aged 48, he presented with a two year history of persistent diarrhoea. A CT scan revealed a left sided 1.7 cm adrenal adenoma. Serial 24 h urine metadrenaline ranged betwe...

ea0019p205 | Growth and development | SFEBES2009

Exposure to a maternal dietary protein restriction during gestation impedes hepatoblast differentiation

Simpson E , Welham S

Maternal undernutrition has been demonstrated to impact upon the development of a number of organ systems, including the kidney and pancreas. Offspring exposed to a maternal dietary protein restriction during gestation exhibit livers with fewer, larger lobules, suggestive of a similar developmental defect. It has been previously suggested that developmental changes, at least in the kidney, might be mediated by a change in the expression of the transcription factor Prox1. Here,...

ea0019p216 | Neuroendocrinology and behaviour | SFEBES2009

Attribution matters: the impact of Klinefelter’s syndrome on psycho-social functioning

Jackson S , Morris M

Background: Klinefelter’s syndrome (KS) is a genetic condition affecting men with the potential to severely reduce their testosterone levels and affect their physical appearance. Being a syndrome there are a variety of different symptoms, which individuals may experience to a great or lesser extent. While much research has been directed at understanding the cognitive impact of KS much less research has been undertaken considering the psycho-social impact of living with th...

ea0019p233 | Pituitary | SFEBES2009

An unusual case of pituitary disease

Balaguruswamy S , Chattington PD

We report a case of multisystem Langerhans cell histiocytosis (LCH) with pituitary involvement nearly 20 years after initial presentation. LCH is a rare disorder in which granulomatous deposits occur at multiple sites within the body often involving the hypothalamo-pituitary axis.A 48-year-old gentleman had Histiocytosis X initially involving groin in1987, responding poorly to treatment with topical nitrogen mustard and radiotherapy. Involvement of exter...

ea0019p383 | Thyroid | SFEBES2009

A lethal combination of thyroid lymphoma and congenital tracheal stenosis

Jadoon K , Olczak S

Background: Hashimoto’s thyroiditis is an autoimmune thyroid disorder. Being a chronic inflammatory process, thyroidits has been recognised as a risk factor for thyroid lymphoma. We present a case of a female with Hashimoto’s thyroiditis, who suffered an out of hospital cardiac arrest and later on died in hospital.Case report: A 30-year-old lady with a background history of Down’s syndrome was referred to endocrinology clinic in 2003 with ...

ea0017oc13 | Diabetes 1 | BSPED2008

Children with Type 1 diabetes should be screened for lipid abnormalities at annual review

Howard S , Allgrove J

Background: Hypercholesterolaemia has been identified as a major risk factor for cardiovascular disease in adults with Diabetes Mellitus (DM), and studies have shown evidence of raised lipid levels in children with Diabetes. However, current NICE guidelines state that ‘Routine screening for elevated blood lipid levels is not recommended for children and young people with type 1 diabetes’; although ISPAD and APEG recommendations are for lipid screening in those over 1...