Searchable abstracts of presentations at key conferences in endocrinology

ea0045oc1.1 | Oral Communications 1- CME | BSPED2016

Pan hypopituitarism – Is it secondary to brain tumour and its treatment?

Arya Ved Bhushan , Spoudeas Helen

A 10-year old boy presented with 12-months history of headache, vomiting, declining school performance and change in behavior. There was no visual disturbance. Neurological examination was normal. Weight and height were between 50th−75th centile. CT head showed a large, partly calcified mass in the sellar region with acute hydrocephalus. Dexamethasone was immediately commenced and care was transferred to the neurosurgical centre.<p class="abstex...

ea0039oc1.1 | Oral Communications 1 | BSPED2015

Gonadotropin-independent precocious puberty of uncertain aetiology

Arya Ved Bhushan , Davies Justin H

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

ea0045oc3.1 | Oral Communications 3- CME | BSPED2016

A case of rare type of Rickets with unidentified genetic aetiology

Arya Ved Bhushan , Brain Caroline , Allgrove Jeremy

A 3-years-old young girl, born to Caucasian non-consanguineous parents, presented with bowed legs, noticed since the age of 18-months. She had no significant past medical or family history. On examination, her height was −1.3 SDS (Mid parental height +1.87 SDS). She had widened wrists, genu varum and rachitic rosary. She had areas of skin hyperpigmentation on left forearm and anterior thigh.Investigations showed low 25-OH Vitamin D (35 nmol/l), nor...

ea0030p47 | (1) | BSPED2012

Beckwith-Wiedemann syndrome with paternally inherited duplication of chromosome 11p and a deletion of the long arm of chromosome 11

Arya Ved Bhushan , Papadopoulou Maria , Senniappan Senthil , Hussain Khalid

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by hyperinsulinaemic hypoglycaemia (HH), overgrowth, tumour predisposition and congenital malformations. Commonly, BWS is caused by epigenetic or genomic alterations, which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. Rarely (~1%), paternally inherited duplications of 11p15 can result in BWS phenotype. We describe the first case of BWS associated with a paternally inherited dup...

ea0066oc1.2 | Oral Communications 1 | BSPED2019

Pituitary Apoplexy in an adolescent male with Macroprolactinoma presenting as middle cerebral artery infarction

Newbold Sally , Arya Ved Bhushan , Kapoor Ritika , Thomas Nick , Fox Krystal , Aylwin Simon , Buchanan Charles

Background: Pituitary apoplexy is uncommon in childhood and adolescence. Typical clinical features are acute confusion, headache, vomiting and visual disturbance. It is caused by haemorrhage into the pituitary gland. Its association with cerebral infarction is rare. We report an unusual case associated with a cerebral infarction secondary to internal carotid artery compression.Case: 16 year old male was referred to the ‘Stroke Team’ with acute ...

ea0066oc5.3 | Oral Communications 5 | BSPED2019

Causes of central diabetes insipidus in children: a single-centre experience

Arya Ved Bhushan , Korkmaz Huseyin Anil , Kalitsi Jennifer , Kapoor Ritika R , Buchanan Charles R

Background: Central diabetes insipidus (CDI) presents with various underlying diagnoses in children.Objective: To determine causes of CDI and long-term outcome in children and adolescents from a Tertiary Paediatric Endocrinology unit providing Regional Paediatric Neurosurgery and head trauma services.Methods: The clinic database was searched to identify patients with CDI managed between 1993 and 2019. Relevant clinical information ...

ea0033p21 | (1) | BSPED2013

Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience

Arya Ved Bhushan , Alam Syeda , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

ea0033p38 | (1) | BSPED2013

Three Families with Diabetes Mellitus and Sensorineural Deafness

Sherif Maha Mohamed , Hadeed Ibtisam , Arya Ved Bhushan , Dattani Mehul , Hussain Khalid

Background: Diabetes mellitus (DM) is one of the commonest chronic disorders of children, and Type 1 DM is the most frequent form of diabetes in children. Rarely DM is associated with other systemic features. DM and sensorineural deafness (SD) are features of rare syndromes like Wolfram syndrome, Rogers syndrome and Mitochondrial DM. Wolfram syndrome (also known as DIDMOAD syndrome) is caused by los of function mutations in the WFS1 gene and the clinical features incl...

ea0095p88 | Adrenal 2 | BSPED2023

A case report of profound hyponatremia unveiling Addison’s disease

Agrawal Pankaj , Kapoor Ritika R , Buchanan Charles R , Arya Ved Bhushan

Introduction: Addison’s disease (AD) is a rare endocrine disorder in children, characterized by insufficient production of cortisol and aldosterone due to adrenal gland dysfunction. While electrolyte imbalances, including hyponatremia, hyperkalaemia, can occur in AD, severe hyponatremia is an unusual and challenging complication in children. We present a case of severe hyponatremia in a teenager diagnosed with AD.Case report...

ea0039ep8 | Adrenal | BSPED2015

Intravenous Etomidate in the management of hypercortisolaemia due to ectopic ACTH producing thymic neuroendocrine tumor

Arya Ved Bhushan , Irvine Vanessa , Rowlands Helen , Sykes Kim , Nicolin Gary , Drake William , Storr Helen , Davies Justin H

Background: Ectopic-ACTH syndrome (EAS) is an extremely rare cause of Cushing’s syndrome in young children. The intensity of ACTH secretion and hypercortisolaemia is greater in EAS than in Cushing’s disease. Control of hypercortisolaemia represents a key management step while awaiting localization of the ACTH source or in preparation to surgery. Etomidate inhibits cortisol synthesis and its rapid onset of action makes it an ideal medication in severe hypercortisolaem...