Endocrine Abstracts

AbstractContinuous subcutaneous insulin infusion (insulin pump therapy) is recommended as a treatment option for patients with type 1 diabetes where multiple-dose insulin therapy has failed. These patients are looked after by a specialist multi-disciplinary team and those receiving this treatment should have the commitment and competence to use the pump effectively.We carried out a retrospective study on 33 paediat...

11-beta-hydroxysteroid-dehydrogenase type 2 deficiency (11bHSD2) or syndrome of apparent mineralocorticoid excess is an autosomal recessive condition that characteristically presents with hypokalaemia and hypertension. In this condition, cortisol is not inactivated to cortisone and thus the excess cortisol cross reacts with the mineralocorticoid receptors in the kidney leading to hypertension, hypokalaemia and suppressed plasma renin activity (PRA) and aldosterone levels. The ...

Anterior pituitary hyperplasia is known to occur with primary hypothyroidism mimicing a pituitary tumour. Massive ovarian enlargement is sometimes associated with juvenile primary hypothyroidism but rarely reported in adults. We report a case of a 23-year-old female who presented with features of a pituitary macroadenoma and bilateral ovarian enlargement which regressed completely with thyroxine therapy.A 23-year-old woman presented with nipple discharge...

Introduction: Diabetic foot ulcers (DFU) have developed into a more common complication among people with uncontrolled diabetes, who also have higher morbidity rates and are more prone to polymicrobial infections that spread quickly and cause irreparable tissue damage. The most difficult aspect of treating diabetic foot ulcers (DFU) is the rising prevalence of multi-drug resistant germs, which necessitates the use of a novel antimicrobial agent.Objective...

Background: Glycated albumin (GA) and glycated haemoglobin (HbA1c) measurements have been used to track the long-term glycemic management of diabetic patients. Other than glycemia, there are known influences on both glycated proteins. In obese, non-diabetic children, GA levels have been found to be low, while in adult diabetic patients, GA levels have been found to be adversely correlated with body mass index (BMI). The causes of the link between obesity and GA are still unkno...

Background: Graves’ disease with ocular myasthenia are autoimmune disorders with their association being rare but well documented. There is overlap of ocular clinical features in both these conditions which can pose a significant clinical challenge. The diagnosis is necessary for both therapeutic and prognostic reasons.Case presentation: A 35 year old lady presented with diplopia on downward gaze for 4 weeks. There is history of unintentional weight...

Background: Hyponatraemia is the most common electrolyte disorder seen in clinical practice. Even mild hyponatraemia can lead to gait disturbances and cognitive dysfunction in the elderly.Case history: A 83-year-old lady presented to acute admission unit with worsening of confusion. Her background medical history includes chronic obstructive pulmonary disease for which she is on inhalers. She was also having hyponatraemia for the last 3 years manifesting...

Introduction: Hartsfield syndrome (#OMIM 615465) describes the rare co-occurrence of holoprosencephaly with ectrodactyly, associated with a spectrum of developmental defects including specific pituitary dysfunction.Case report: Our patient, a male infant, had several congenital abnormalities: bilateral cleft lip and palate, right sided microtia, bilateral ectrodactyly of the hands and feet and semilobar holoprosencephaly. Aged 5 weeks he was noted to be ...

Introduction: Diabetic Ketoacidosis (DKA) is a life-threatening complication of Type-1 diabetes mellitus (T1DM) in children and young people (CYP). An Integrated Care Pathway (ICP) for management of DKA is established in Wales with the 3rd edition published in March 2016. This is based on the 2015 British Society for Paediatric Endocrinology and Diabetes (BSPED) guidelines.Aims: To audit the management of DKA in a teaching hospital following the introduc...

Background: Triple A syndrome is a rare, autosomal recessive cause of adrenal insufficiency. Additional features include alacrima, achalasia of the oesophageal cardia, and neurodegenerative disease in 60%. The AAAS gene product is the nuclear pore complex protein ALADIN of unknown function. AAAS patient dermal fibroblasts have been described as hypersensitive to oxidative stress1,2,3.Objective: To establish a better disease model by kno...