Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a genetic endocrine disorder associated with long-term health risks. Supported by the Society for Endocrinology, the original CaHASE study consisted of an initial questionnaire to UK centres providing specialist care to adults with CAH, followed by a nationwide audit. Three hundred and seventy-three patients from 17 centres were contacted between 2004 and 2007, 203 of whom agreed to participate (138 women, 65 men, median age 34 (range 18...

Background: Malignant paragangliomas are rare. Predictors of malignant potential include high levels of normetadrenaline and/or dopamine, and the presence of a germline mutation in the succinate dehydrogenase B gene (SDHB). Prognosis is poor and treatment options are limited, with only short-term responses observed after 131I-MIBG therapy or chemotherapy.Aim: To report response to the oral tyrosine kinase inhibitor sunitinib.<p cl...

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pulmonary pathology which encompasses a spectrum of findings ranging from simple neuroendocrine cell proliferation to discrete nodules, and is strongly associated with carcinoid tumours. Patients, typically female, are often asymptomatic, but may present with overt pulmonary symptoms, such a dyspnoea, cough or pleuritic chest pain; however, even in their absence, a degree of obstructive or mixed o...

Due to the increased availability and use of radiology, endocrinologists are referred patients with incidentally discovered, clinically silent adrenal masses with increased frequency. Controversies persist regarding their investigation and management. We present two cases focusing in particular on the role of radiology in the management algorithm.A 43-year-old male underwent a CT urogram, which revealed an incidental 3×3×2 cm right adrenal mass...

A 29 year old gentleman was referred for investigation of subfertility and hypogonadism. He gave a history of normal erections and libido but had never shaved in his life. Though he denied anosmia, his maternal uncle had a poor sense of smell and his great uncle had needed to adopt children. He was markedly undermasculinised with micropenis and an empty scrotal sac. Neurological assessment showed subtle features of bimanual synkinesis (mirror movements), suggesting X-linked Ka...

Introduction and aims: Women with polycystic ovary syndrome (PCOS) are at significantly increased risk of developing impaired glucose tolerance (IGT; prevalence 9–35%) and type 2 diabetes (T2DM; prevalence 2–10%), hence screening for these complications is recommended. The American Androgen Excess Society (AAES) recommends a biannual oral glucose tolerance test (OGTT) in all women with PCOS but this is costly and inconvenient. Alternative strategies which minimise th...

Background: Insulin resistance is a hallmark of Polycystic Ovary Syndrome (PCOS). Insulin sensitisers, most notably metformin, are thus used to treat the condition, but may be accompanied by gastrointestinal side-effects. The novel isomeric insulin sensitising agents D-chiro-inositol (DCI) and Myo-inositol (MI) improve insulin resistance by acting at the peripheral and ovarian level, respectively, whilst largely being devoid of adverse effects.<p class="...

Background: Insulin resistance is a hallmark of Polycystic Ovary Syndrome (PCOS). Insulin sensitisers, most notably metformin, are thus used to treat the condition, but may be accompanied by gastrointestinal side-effects. The novel isomeric insulin sensitising agents D-chiro-inositol (DCI) and Myo-inositol (MI) improve insulin resistance by acting at the peripheral and ovarian level, respectively, whilst largely being devoid of adverse effects.<p class="...

Introduction: Prader Willi syndrome (PWS) is a complex neurodevelopmental genetic condition which is characterised by hyperphagia, endocrine dysfunction, behavioural and psychiatric issues. Current literature recommends a multi-disciplinary approach to PWS management to tackle its multi-faceted manifestations. No previous study has examined the views and satisfaction levels relating to the services provided for children with PWS in Wales.Methods: Semi-st...

Aim: To assess whether using urine catecholamines as a second line investigation has affected clinical decision making in patients with suspected pheochromocytoma and paraganglioma.The need for the audit: New society of endocrine guidelines in June 14, have recommended using urine metanephrines as the initial screening test for PPGL. Current practise at University Hospital Wales is to offer urine catecholamines as the second line test to patients with a ...