Searchable abstracts of presentations at key conferences in endocrinology

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 ...

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...

ea0058oc7.6 | Oral Communications 7 | BSPED2018

Type A Insulin Resistance Syndrome due to an INSR mutation Presenting with diabetes mellitus evolving to hyperandrogenism and PCOS

Aghababaie Arameh , Ford-Adams Martha , Buchanan Charles R , Arya Ved , Hattersley Andrew , Colclough Kevin , Kapoor Ritika R

Background: Mutations in the insulin receptor (INSR) gene are rare and cause a spectrum of severe insulin resistance syndromes including Donohue syndrome, Rabson Mendenhall syndrome, and Type A Insulin Resistance Syndrome (IRS). We describe a young female with a heterozygous INSR mutation, who presented with antibody positive diabetes mellitus (DM) and subsequently developed features of Type A IRS.Case Report: A 12 year old Jamaican gir...

ea0078p59 | Pituitary and Growth | BSPED2021

Lymphocytic Hypophysitis: A rare entity in children - Case report

Agrawal Pankaj , Bhushan Arya Ved , Maratos Eleni , Bodi Istvan , Al Busaidi Ayisha , Wei Christina , Kapoor Ritika R , Aylwin Simon , Buchanan Charles R

Introduction: Pituitary inflammation (Hypophysitis) is rare in paediatric population and usually results in pituitary enlargement and hypopituitarism. Hypophysitis can be either primary (most commonly lymphocytic, granulomatous or xanthomatous disease) or secondary (consequent to systemic diseases, immunotherapy or alternative sella-based pathologies). We describe the clinical presentation and management of apparent primary lymphocytic hypophysitis in an adolescent girl. Case ...

ea0058oc4.8 | Oral Communications 4 | BSPED2018

Prolactinoma in Childhood and Adolescence – outcomes relating to the size of tumour

Arya Ved Bhushan , Kapoor Ritika , Hulse Tony , Ajzensztejn Michal , Kalitsi Jennifer , Kalogirou Nicolas , Bodi Istvan , Thomas Nick , Hampton Tim , Aylwin Simon , Buchanan Charles R

Objective: To describe the clinical presentation, management and treatment outcomes of prolactinomas diagnosed in childhood and adolescence in a consecutive series.Design and Methods: A retrospective review of medical records of patients with prolactinoma less than 20 years at diagnosis, referred to a tertiary paediatric endocrine service between 1996 and 2018.Results: Twenty-three patients (14 females) were identified; median age ...