Searchable abstracts of presentations at key conferences in endocrinology

ea0063s15.5 | European Young Endocrine Scientists (EYES) | ECE2019

Lysophosphatidic acid in pathogenesis of HNF1B-MODY syndrome

Małachowska Beata

Background: HNF1B-MODY is a rare autosomal dominant monogenic form of diabetes coexisting with kidney abnormalities.Objectives: Identification of altered serum metabolites among HNF1B-MODY patients and investigating its function in syndrome pathogenesis.Methods: We recruited patients with HNF1B-MODY (N=10), HNF1A-MODY (N=10), polycystic kidney disease: non-dialyzed and dialyzed ...

ea0037ep607 | Obesity and cardiovascular endocrinology | ECE2015

Audit of metabolic profiles in women with Turner syndrome

Kyithar Ma Pyeh , McQuaid Siobhan

Introduction: Adults with Turner syndrome (TS) are at increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the compliance with clinical guidelines (Bondy 2007) in measuring metabolic profiles in adults with TS.Methods: Case notes of patients attending a dedicated TS clinic were studied. Variables assessed included anthropometric measurements, blood pressure (BP), fasting plasma glucose (FPG), HbA1c, fasting lipi...

ea0011p734 | Steroids | ECE2006

Establishing circadian rhythm profiles for salivary testosterone in women: evidence of decline during ageing

Al-Dujaili EAS , Sharp MA

Androgens are increasingly known to play an important role in female health, development and well being. Alongside a controversial increase in androgen therapy there is a realisation that what actually constitutes androgen insufficiency is poorly understood. The aim of this study was to establish circadian profiles for salivary testosterone in healthy women from the age of 19 through 69 year old at 3 points during the menstrual cycle. Females were subdivided into these groups:...

ea0013p88 | Clinical practice/governance and case reports | SFEBES2007

Hypoglycaemia secondary to leukamoid reaction

Elrishi MA , Bradley EJ , Lawrence IG

Introduction: Artifactual hypoglycaemia has been reported to occur in leukaemia, and also reported in polycythemia Vera, being caused by in vitro autoglycolysis due to an exaggerated consumption of glucose by white blood cells1. We report a case of recurrent hypoglycaemia found to be artifactual secondary to a leukamoid reaction.Case report: A 78-year-old lady with a poorly differentiated endometrial adenocarcinoma was referred to us with a hi...

ea0012p120 | Steroids to include Cushing's | SFE2006

Fluticasone-induced adrenal suppression in an HIV positive patient is reversed by substitution with Beclomethasone

Moqsith MA , El-Dalil Ashraf , Dale Jane

Ritonavir is a protease inhibitor used in the treatment of HIV infection. It can potentiate the effect of inhaled corticosteroids, resulting in iatrogenic Cushing’s syndrome.We present a case of a 21-year-old female who had acquired HIV infection at birth, who also had moderately severe asthma since childhood treated with inhaled salbutamol 100 mcg prn and fluticasone 500 mcg bd. She had twice-yearly exacerbations requiring oral steroids. She commen...

ea0011p87 | Clinical case reports | ECE2006

Gitelman’s syndrome in pregnant, type 1 diabetic patient presented with foetal growth retardation, and bilateral hydronephrosis and hydroureter

Elrishi MA , Kilvert A , Sirnivasan B , Lawrence I

Gitelman’s syndrome (GS) is an autosomal recessive primary renal tubular disorder with hypokalemic metabolic alkalosis, hypocalciuria, and magnesium deficiency. The association of GS and type 1 diabetes is rare1, and bilateral hydronephrosis and hydroureter has not been reported.A 18-year-old female with known GS diagnosed at 17 years of age and type 1 diabetes diagnosed at 15 years of age was admitted to Leicester Royal Infirmary for pre...

ea0011p715 | Reproduction | ECE2006

Which clinical features of polycystic ovary syndrome are improved with metformin therapy? A retrospective study

Elrishi MA , Levy MJ , Howlett TA

Background: Metformin is increasingly used in the management of polycystic ovary syndrome (PCOS) but there remain differences in opinion as to its precise role in terms of clinical benefit. We retrospectively reviewed the effects of metformin on menstrual regularity, fertility, weight and hirsutism in 244 patients with PCOS treated routinely with metformin in our clinics.Results: Patients were of median age 27 years (range 12–47) with median BMI of ...

ea0063p413 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Phenotypic variability within a family with multiple endocrine neoplasia type 1 (MEN1) syndrome

Ahmad Tariq , Sharma Jayant , Crowley Rachel , Kyithar Ma Pyeh

MEN1 is an autosomal dominant endocrine tumour syndrome, caused by inactivating mutations of the MEN1 tumour suppressor gene at 11q13 locus and characterised by occurrence of hyperparathyroidism, pancreatic tumours and pituitary adenomas. We describe a family with MEN1 syndrome. The index case was a 71-year-old man, referred to Endocrinology clinic in Midland Regional Hospital Portlaoise for hypercalcemia (calcium 3 mmol/l, phosphate 0.5 mmol/l, PTH 350 pg/ml, creatin...

ea0070aep82 | Adrenal and Cardiovascular Endocrinology | ECE2020

Malignant collision tumour in left adrenal gland- A rare tumour

Al-Mrayat Ma’en , Sim Sing Yang

We present a 41 years old lady who presented with non specifc symptoms- lethargy, general myalgia, memory impairment. She also complained of hot flushes, sweats and had a brief episode of panic attacks hence was commence on Sertraline by the GP. She has a past medical history of appendicectomy. Her mother had lymphoma and mother died from lung cancer. She is a smoker, however is teetotal. She has 3 children and works in a laundry. She was initially referred to the haematologis...

ea0070ep52 | Adrenal and Cardiovascular Endocrinology | ECE2020

VHL-bilateral adrenalectomy with paragangliomas (A rare entity)

Yang Sim Sing , Al-Mrayat Ma’en

Von Hippel–Lindau (VHL) disease, attributable to germline mutations in the VHL gene on the short arm of chromosome 3 (3p25-26) is an inherited condition which can give rise to paragangliomas. We present a case of 47 year old gentleman with bilateral pheochromocytomas in the past resulting in both adrenalectomies as a child in the 1980. His routine follow up subsequently picked up elevated urine Normetanephrines at 14.3 µmol/24 h 25 years postoperatively. His CT abdo...