Endocrine Abstracts

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 ...

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...

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:...

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...

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...

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...

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 ...

Background: While the classic presentation of pheochromocytoma includes a triad of episodic headaches (90%), diaphoresis (60–70%), and palpitations (70%), literature has suggested 10% to 17% of patients with pheochromocytoma are either asymptomatic or mildly symptomatic; thus, highlighting the importance of appropriate endocrine work up of adrenal incidentalomas.Case: We report a 37-year-old male with a long-standing history of nocturia and dysuria,...

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...

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...