Endocrine Abstracts

Joanne has two adolescent daughters with salt wasting CAH. Her talk will focus on CAH during this stage of transition and aims to inform on three areas: direct insight from her daughters on key matters for adolescents living with CAH and what they need; the changes for parents; and reflections on the long-term impact on parents raising children with CAH - how can professionals help?...

Background: The displacement of cortisol from its binding globulin (CBG) in the Abbott Alinity immunoassay assumes an average concentration of CBG in all individuals. Displacement buffer volume, and/or composition, is frequently insufficient to displace cortisol where higher concentrations of CBG are present (e.g. with higher oestrogen concentrations). To address this bias, the Eastern Pathology Alliance (EPA) introduced a 1:2 dilution step on all serum cortisol specimens in D...

We report the case of a 47-year-old woman with a 5-year history of weight gain, resistant hypertension and uncontrolled type 2 diabetes. She complained of oligomenorrhoea, depression and had a strikingly Cushingoid appearance and so underwent evaluation for Cushing’s Disease.Investigations revealed elevated 24-hour urine free cortisol (UFC) collections on 2 occasions: 540 nmols/24h and 624 nmols/24h. Overnight dexamethasone suppression testing (ODST...

A 56-year-old woman presented with progressive swelling of her face and fatigability. Investigating for Cushing’s, her 24-hour Urine Free Cortisol was negative at 43 and 70nmol/24hr (Reference interval or R.I. < 146 nmol/24hr) with overnight dexamethasone suppression test showing full suppression of cortisol to 34nmol/l. Her short synacthen test was normal at 30-minute cortisol of 753nmol/l (R.I.>420); on Zumenon. Other pituitary function tests were unremarkable b...

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

Exercise is a potent stimulus for growth hormone (GH) release and a single 30 s sprint elicits a marked increase in circulating GH. However, the mechanisms regulating GH release during and after exercise are not fully understood (1). The aim of the present study was to determine whether age, body composition, the metabolic response to or performance during a single 30 s sprint are predictors of the GH response in young men.Following local Ethics Committe...

Ghrelin, a novel GH-releasing n-octanoylated peptide, has been identified as an endogenous ligand for the 'orphan' GH secretagogue receptor. When administered iv or icv, Ghrelin causes a greater increase in serum GH concentrations than hexarelin or GHRH. However Ghrelin has a number of other actions: it promotes food intake, raises serum glucose and inhibits insulin secretion, increases ACTH and cortisol secretion and influences cardiac function.In orde...

Introduction: Blood chimerism is the condition characterized by the presence of cells from at least 2 zygote lineages in only the lympho-hematopoietic system. It is very rare in humans and is most commonly seen in monozygotic monochorionic twins through placental anastomoses.Case report: A 12 years old young girl, one of dichorionic dizygotic twins, had a genetic test performed for paternity issues. CGH array showed 46XY genotype (90%) and another genoty...

A 29-year-old man of South Asian descent presented with pancreatitis. Adjusted calcium was 3.10 mmol/l and PTH 9.8 μmol/l. Of note was that his parents were first cousins, and a cousin had undergone parathyroidectomy for hypercalcaemia.Pituitary, adrenal and thyroid function, calcitonin, prolactin, phosphate, magnesium, alkaline phosphatase and urinary catecholamines were all normal. 25-Hydroxyvitamin D was 20 nmol/l (15–100) The patient was th...

Objective: The British Thyroid Association (BTA) published guidelines for thyroid function testing (TFTs) in June 2006, recommending that TFTs should not be requested for acute medical patients in the absence of specific clinical indications. This audit assesses the proportion of thyroid function tests performed on acute medical inpatients that are indicated.Design: Retrospective data collection on 205 sequential thyroid function tests performed over 3 m...