Searchable abstracts of presentations at key conferences in endocrinology

ea0014p386 | (1) | ECE2007

Congenital hypothyroidism – results of a protocol implemented &br;1993–2006

Melo Miguel , Buchanan Charles

Introduction: A new Regional Paediatric Endocrine Service was established in 1993 which implemented a protocol for Congenital Hypothyroidism (CH) management. Its aim is to confirm the diagnosis, establish aetiology and start treatment within 48 hours after the result of the screening test.Objective: To audit the results of this protocol.Methods: Case note and laboratory data review for all Neonates referred since 1993 after a posit...

ea0051p085 | Diabetes | BSPED2017

Differences in HbA1c among different ethnicities

Cocca Alessandra , Holloway Edward , Buchanan Charles , Hulse Tony

Introduction: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have a higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care. However differences in HbA1C in ethnic minorities could also relate to biological factors so we looked at mean levels of glycaemia. The aim of our study was to observe if there is a similar correlation between ...

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...

ea0039oc8.1 | Oral Communications 8 | BSPED2015

4 year outcome of combined ‘en bloc’ liver-pancreas transplant in two adolescents with cystic fibrosis

Cheung Moira , Bartlett Fiona , Wyatt Hilary , Buchanan Charles , Kapoor Ritika

Background: Cystic fibrosis related diabetes (CFRD), a common complication of CF, contributes to increased morbidity and mortality and is a poor prognostic indicator. Whilst liver transplant is a well-established treatment for end stage liver disease (ESLD) in CF, there are few reports of simultaneous pancreatic transplant in the paediatric population. We report the nutritional and endocrine outcomes of two adolescent CF patients who underwent combined liver and pancreas trans...

ea0021p300 | Pituitary | SFEBES2009

Genetic screening for variability in regulatory regions of SOX2 and implications for hypothalamo-pituitary development

Alatzoglou Kyriaki S , Kelberman Daniel , Buchanan Charles , Dattani Mehul T

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

ea0045oc6.3 | Oral Communications 6- Endocrine | BSPED2016

Reversible 5α-reductase 2 deficiency in Hypothyroidism

Kanumakala Shankar , Taylor Norman , Bahar Shazia , Buchanan Charles

Introduction: In total of 5α-reductase 2 is vital in sexual development of male foetus; its deficiency causes impaired virilisation due to defective conversion of testosterone to dihydrotestosterone and is an important cause of Disorders of Sexual Development (DSD). We report 3 cases of severe primary acquired auto-immune hypothyroidism, which show a similar picture of 5α-reductase deficiency (5ARD) on urine steroid profile (USP) and reversible following adequate thy...

ea0051p043 | Pituitary and growth | BSPED2017

SOX3 gene duplication (OMIM 313430) associated with midline CNS malformations, hypopituitarism and neurodevelopmental abnormalities: 3 unrelated cases

Nambisan Aparna K.R. , Kapoor Ritika , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R.

Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...

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 ...

ea0058p041 | Thyroid | BSPED2018

Single UK tertiary centre experience of newly presenting thyrotoxicosis in childhood and adolescence (2013–2018)

Munshid Sarrah El , Arya Ved B , Kalitsi Jennifer , Kapoor Ritika R , Buchanan Charles R

Introduction: Thyrotoxicosis, the commonest cause of which is Graves’ disease, is rare in childhood and adolescence.We report a consecutive series of patients referred to a single tertiary paediatric endocrine centre over 5 years.Methods: Retrospective case note and database review of patients referred 01/2013–02/2018.Results: 27 patients (21F) with Graves’ disease in 21, and Hashitoxicosis in 6. During the same peri...