Searchable abstracts of presentations at key conferences in endocrinology

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...

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...

ea0070aep763 | Pituitary and Neuroendocrinology | ECE2020

Prolactinoma In childhood and adolescence – a systematic review and meta-analysis

Bhushan Arya Ved , Aylwin Simon , Kapoor Ritika R , Buchanan Charles R

Background and ObjectiveData on the epidemiology, effects of dopamine agonists and long term outcome of prolactinoma in children and adolescents have been gradually accumulating but are still scarce. We conducted a systematic review and meta-analysis of published literature (1994 – 2019) to study the epidemiology of prolactinoma in patients < 20 years old, and determine the management strategies adopted.Methods: Relevant ...

ea0027p23 | (1) | BSPED2011

CHARGE syndrome: experience of a tertiary Endocrine Centre

Kumaran Anitha , Lazzeroni Pietro , Brain Caroline , Hussain Khalid , Kapoor Ritika R , Dattani Mehul

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

ea0024oc1.8 | Oral Communications 1 | BSPED2010

Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism

Kapoor Ritika R , Flanagan Sarah E , Shield Julian P , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

ea0095p75 | Pituitary and Growth 1 | BSPED2023

Growth hormone deficiency associated with BRAF-related cardiofaciocutaneous syndrome

Mann Amy , Chapman Simon , Raoof Naz , Robert Leema , Kapoor Ritika R

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...

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...

ea0095p71 | Pituitary and Growth 1 | BSPED2023

The oxytocin system in craniopharyngioma: A systematic review

Mann Amy , Kalitsi Jennifer , Jani Khushali , Martins Daniel , Kapoor Ritika R , Paloyelis Yannis

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...