Endocrine Abstracts

Introduction: PSIS is a rare congenital abnormality characterised by a triad of thin or interrupted pituitary stalk, small or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. Incidence is around 0.5/100 000 births. Clinical presentation varies according to age. We herein describe two cases of PSIS diagnosed in the early infantile period.Case 1: A term female neonate born by emergency section...

Background: Heterozygous loss of function glucokinase mutations causes MODY with fasting hyperglycaemia (>5.5 mmol/l). We report a 2 year girl with a glucokinase mutation who presented unusually with stress induced hyperglycaemia and normal fasting blood glucose levels.Case report: She presented with wheeze and was started on Salbutamol. Her blood glucose rose to 16 mmol/l with ketonuria. The hyperglycaemia was disproportionate to the severity of the...

Background: Neonatal diabetes can present from birth to 6 months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below. We recommend an initial check of blood glucose concentrations in all sick infants who present to accident and emergency.Case report: A 7-week-old, born to nonconsanguineous parents presented with a temperature of 38.6 °C and a 1 day history of poor feedin...

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...

Induction of puberty may be required in boys, if puberty is either delayed or arrested. Boys with delayed puberty are often significantly concerned about their physical immaturity, short stature and perceived difference in appearance from peers. The commonest cause of delayed puberty is constitutional delay of growth and puberty (CDGP), a relatively benign condition. However, hypergonadotrophic hypogonadism due to Klinefelter syndrome and hypogonadotrophic hypogonadism (HH) du...

Introduction: Thyroid storm is a major life-threatening condition in a patient of thyrotoxicosis which can precipitate the cardiovascular morbidity in forms of tachycardia, arrythmia and congestive heart failure. It can be precipitated by acute coronary syndrome. Most literatures have reported acute coronary syndromes during the presentation itself but we describe an unique case where the diagnosis was possible after the resolution of the thyroid storm.C...

A 41 year old lady was referred to the endocrine clinic by her respiratory physician. She is known to have Langerhans cell histiocytosis (LCH) with lung involvement. She is having yearly follow up under respiratory team and not needing any treatment for LCH. In endocrine clinic she confirmed that she is drinking around 9 to 10 L of water / day and having quite significant polyuria. She works in Tesco. She does not have any other medical condition and not taking any regular med...

A 71 year lady, who has past history of acute ischaemic stroke ( now bed bound and can only get out of bed with the help of a hoist) , Type 2 diabetes melitus, HTN, CKD and high lipid. She is on Metformin 1 gm twice daily, Ramipril 5 mg at night, Clopidogrel 75 mg od, Atorvastatin 80 mg od. She was brought to hospital by unexplained drowsiness and poor oral intake. Her blood sugar was 72, ketone 5.2, Ph: 7.21, Na: 165, Urea 14 and calculated osmolality of 412. Her chest xray a...

Background and objectives: Ineffective communication is one of the leading causes of medical errors and patient dissatisfaction. We implemented an initiative for dynamic endocrine tests to enhance communication with primary care colleagues and patients.Methods: We introduced a comprehensive system of organising dynamic tests, structured documentation, weekly endocrine meeting to discuss the results and standardised escalation process for suspected abnorm...

Introduction: Trimethylaminuria or Fish Odour syndrome is a rare genetic metabolic disorder. It can cause significant suffering to affected individuals due to social isolation and stigma. It is under recognised and ignored.The case: A 60 years old lady was referred by her GP. The referral – ‘She feels she has a problem with personal hygiene and is aware of an odour from her skin, her breath and urine.’ This lady has been suffering from thi...