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...

ea0051p004 | Thyroid | BSPED2017

Double Trouble in a case of iatrogenic induced hyperthyroidism

Appleby Gayle , Lascelles Karine , Arya Ved , Ajzensztejn Michal

Background: Twin sisters with infantile epilepsy developed biochemical hyperthyroidism after commencing Topiramate, which resolved post cessation. This case-report describes the events and has found limited evidence in the literature.Case presentation: MCDA twins, 9 months of age, were admitted with seizure activity. Additionally twin 2, had neurocutaneous melanosis and a viral respiratory illness. Medications on admission were: Levetiracetam, Vigabatrin...

ea0066p78 | Pituitary | BSPED2019

Cranial diabetes Insipidus and anterior pituitary hormone deficiencies following ‘minor’ concussive sports head injury

Fox Krystal , ARYA Ved , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

ea0039ep48 | Diabetes | BSPED2015

Use of U200 insulin degludec (Tresiba) and metformin in an adolescent with Type-1 diabetes-mellitus

Bhushan Arya Ved , Newland-Jones Philip , Trevelyan Nicola

Background: Insulin dose requirements are higher during puberty and in overweight/obese individuals with type 1 diabetes mellitus (T1DM) due to insulin resistance. Through meta-analysis metformin has been shown to be beneficial as adjunctive therapy in T1DM adults independent of BMI. The large volumes of insulin required to administer higher insulin doses in insulin-resistant individuals have adverse effects on insulin absorption. Insulin degludec (Tresiba) U200 preparation al...

ea0058p018 | Gonadal | BSPED2018

XY-DSD due to haematological chimerism in twin pregnancy

Sakka Sophia , Arya Ved , Hall Richard , Holder Muriel

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...

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...

ea0085p87 | Thyroid | BSPED2022

Congenital hypothyroidism due to PAX8 gene mutation – a case report

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

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

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 ...