Endocrine Abstracts

Background: Following a national survey indicating variations across the United Kingdom in the management of children and young persons with CAH, we aimed to explore the current practice of CAH clinical management.Methods: As part of an ongoing project, we collected data on 96 UK patients under 18 with 21-hydroxylase deficiency (48 females), 649 clinic visits from 15 centres, recorded in the I-CAH registry since 01/01/2016. We analysed information relate...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive condition that causes reduced cortisol, reduced aldosterone, and increased testosterone production. Hydrocortisone is used to manage CAH in children. Current literature suggests children with CAH often have abnormal growth patterns.Aims and Methods: Data from 103 children was extracted from our centre. We investigated the effects of age, sex, ethnicity, Index of Multiple Depriva...

Introduction: Adrenal insufficiency can arise from a variety of conditions that disrupt endogenous steroid synthesis (1). Those with adrenal insufficiency are at risk of developing adrenal crisis, which is often precipitated by acute illness. It can be underdiagnosed and undermanaged in the paediatric population(1). This quality improvement project (QIP) aims to review the confidence of staff and parents/carers, in a district general hospital, in recognis...

Background: Hyperkalaemia, defined as potassium levels above 5.5 mmol/l, is a potentially life-threatening condition commonly seen in congenital adrenal hyperplasia (CAH). Pseudohyperkalaemia is a false elevation of potassium observed in vitro, caused by potassium moving out of cells (erythrocytes, leukocytes, or platelets) during or after blood sampling. This is often linked to high platelet counts (>450×10^9/l), due to potassium release from activated plate...

Background: Neuroendocrine tumours (NETs) are extremely rare in children and adolescents (incidence approximately 2.8 cases per million). Around 10-20% of paediatric NETs present with metastatic disease at diagnosis.Aim: We present a case of metastatic poorly differentiated NET in a teenager with a suspected right lung primary as a rare cause of ACTH-dependent ectopic Cushing’s syndrome (CS).Case presentation: A 15-year-old se...

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders, characterised by impaired cortisol synthesis. 21-hydroxylase deficiency (21OHD) accounts for >95% of CAH cases. Lack of negative feedback on the hypothalamic–pituitary–adrenal (HPA) axis results in increased adrenal androgen production due to elevated steroid precursors, such as 17-hydroxyprogesterone, that are shifted towards androgen synthesis. Long term sequelae of poor CAH control include...

Background: Patients receiving triazole antifungals can present with hypertension and hypokalaemia. These drugs are reported to cause variable inhibition of the steroidogenic enzymes 11β hydroxylase and 11β hydroxysteroid dehydrogenase type 2 (11βHSD2). The ensuing clinical picture is similar to congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency or apparent mineralocorticoid excess (11βHSD2 deficiency), with posaconazole and itracon...

Background: Adrenal insufficiency is a life-threatening condition, which may present in the neonatal period with an array of symptoms, one of which includes conjugated hyperbilirubinaemia. The aim of this study was to review the cortisol tests performed across 2 tertiary neonatal centres and to determine how many were undertaken due to conjugated hyperbilirubinaemia and the outcomes of the babies they were performed on.Methodology: All cortisol tests tak...