Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0027p80 | (1) | BSPED2011

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

Kapoor Ritika , Flanagan Sarah , Ellard Sian , Hussain Khalid

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease. The clinical heterogeneity may range from mild subtle hypoglycaemia to severe life threatening hypoglycaemia. The commonest genetic cause of congenital hyperinsulinism are mutations in the genes ABCC8 and KCNJ11 encoding the two subunits (SUR1 and Kir6.2 respectively) of the pancreatic β-cell KATP channel. In the Ashkenazi Jewish population two founder mutation...

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 ...

ea0085p43 | Pituitary and Growth 1 | BSPED2022

Neurobehavioural impairments in children with septo-optic dysplasia: a scoping review

Mann Amy , Aghababaie Arameh , Kalitsi Jennifer , Martins Daniel , Paloyelis Yannis , Kapoor Ritika R

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

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 ...

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 ...

ea0039ep80 | Miscellaneous/other | BSPED2015

Volumetric changes in the hippocampus and relationship to memory indices in children with hyperinsulinaemic hypoglycaemia and ketotic hypoglycaemia

Kumaran Anitha , Bullock Jemima , Kapoor Ritika , Chong Kling , Gadian David , Vargha-Khadem Faraneh , Hussain Khalid

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...

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...