Searchable abstracts of presentations at key conferences in endocrinology

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 ...

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...