Endocrine Abstracts

Introduction: Familial hypercholesterolaemia (FH) is a severe form of hyperlipidaemia resulting in early coronary heart disease (CHD). It has autosomal dominant inheritance with a prevalence of 1 in 500.Aim: Given this prevalence we would expect 1000 cases in our local catchment area of East and North Hertfordshire. Far fewer cases are know about. We tried to find out where potential cases were and assess the management of all cases.<p class="abstext...

Introduction: Hyponatraemia is commonly encountered in clinical practice in the context of multiple pathology and marked morbidity. A study was conducted to examine the quality of clinical assessment, care offered and frequency of specialist opinion sought in hospital in-patients with severe hyponatraemia (<120 mmol/l).Audit standards included assessment of fluid status, measurement of ‘baseline investigations’ (urinary sodium and paired os...

A 30-year-old woman, presented 3 weeks postpartum, with episodes of sweating, dizziness and confusion, which occurred a few hours after eating and also on waking. At consultation she became vacant and lost consciousness. Her capillary blood glucose was found to be 1.2 mmol/l and she promptly responded to intravenous glucose administration. There was a history of several similar, but less severe episodes which required frequent feeding to avoid them. Her liver function and pitu...

Introduction: Paediatric Cushing’s disease is rare and up to 50% have incomplete cure.1 Besides hypopituitarism growth failure is particularly common and maybe due to GH deficiency, target tissue resistance2 or accelerated skeletal maturation 3. Our patient is an 18-year-old obese male who first presented at the age of 16 with delayed puberty and short stature.Results: His 24 hr urinary cortisol was 1472 nmol/l, ACTH...

The causes of panhypopituitarism are well known and pituitary metastases is a recognised but rare cause. It can often be difficult to diagnose because the non-specific features of malignancy mask those of pituitary involvement.We present the case of a 73 year old gentleman who complained of fatigue and weight loss. He had recently been treated for a radiographically proven bronchopneumonia. Endocrine checks suggested secondary hypothyroidism however (TSH...

BackgroundIdiopathic Addisons disease is characterised by the presence of adrenal antibodies and a documented variable subclinical period. In previously well controlled Type 1 diabetes, it may present with recurrent hypoglycaemia, or worsening erratic glycaemic control.Case ReportA 24 year old with previously well controlled Type 1 diabetes since age 18 months presented with worsening glycaemic control, 2 sto...

BackgroundIdiopathic Addisons disease is characterised by the presence of adrenal antibodies and a documented variable subclinical period. In previously well controlled Type 1 diabetes, it may present with recurrent hypoglycaemia, or worsening erratic glycaemic control.Case ReportA 24 year old with previously well controlled Type 1 diabetes since age 18 months presented with worsening glycaemic control, 2 sto...

Recognition of male adult onset hypogonadotrophic hypogonadism (HH) is important in identifying treatable forms of infertility, erectile dysfunction and osteoporosis.There are currently no evidence-based guidelines for diagnosing and treating HH.We evaluated the assessment, diagnosis, treatment strategies and outcome in adult men with suspected HH seen in our endocrine clinic over 1 year. We aimed to evaluate the usefulness of pitu...

Diabetes is a common presentation in children and young people. We describe a case of undiagnosed cystic fibrosis (CF), where diabetes was the presenting diagnosis. A 14 year old girl presented with a 2-month history of weight loss, abdominal pain, polyuria and polydipsia. Blood glucose was 31.4 mmol/l with ketones of 0.8 mmol/l, and a diagnosis of T1DM was made. Initial bloods showed HbA1c 150 mmol/mol, normal thyroid function, negative TTG, and negative TPO, GAD and IA2 anti...

Introduction: Adrenal masses may be found as incidental features during abdominal imaging investigations, raising questions as to the need to investigate these lesions for endocrine function or malignancy. This audit utilised published articles and consensus papers to compare our current approach with reported practice in other centres.Method: A retrospective review of the case notes of 21 patients referred to the Endocrine service in the Trust from Nove...