hrp0097p2-261 | Late Breaking | ESPE2023

Rare cause of Endocrine Hypertension - Apparent Mineralocorticoid Excess with a novel mutation

Valliyappan Soundaram , Saravanan Margabandhu , Kapoor Ritika

Introduction: Apparent mineralocorticoid excess (AME) is rare cause of endocrine hypertension. 11 alpha hydroxysteroid dehydrogenase(HSD) type 2 enzyme metabolises cortisol to cortisone, thereby inhibiting cortisol acting at mineralocorticoid receptor(MR). In AME, this enzyme is defective resulting in unmetabolised cortisol causing MR activation with resultant hypokalemic metabolic alkalosis and hypertension.Case presentation:</s...

hrp0082p3-d1-670 | Bone | ESPE2014

Primary Hypomagnesaemia with Secondary Hypocalcaemia (HSH): an Uncommon Diagnosis for a 2 Month Old Afro-Caribbean Formula Fed Infant Presenting with Seizures

Ihe Chibuzor , Kalitsi Jennifer , Kapoor Ritika , Buchanan Charles

Background: HSH is a rare condition, first described by Paunier et al. (1968). It is an autosomal recessive disorder arising from impaired intestinal absorption of magnesium (Mg) together with renal Mg loss due to a re-absorption defect in the distal convoluted tubule. Mutations in the TRPM6 gene (Chr9q21) (OMIM #607009) have been identified as the underlying genetic defect. A review of 28 affected individuals (21 families) showed median age of diagnosis of 2 months, ...

hrp0095p1-191 | Thyroid | ESPE2022

Hyperthyroidism leading to Idiopathic Intracranial Hypertension in a Child – A Case Report

Agrawal Pankaj , R Kapoor Ritika , A Chapman Simon , Wei Christina , R Buchanan Charles , Bhushan Arya Ved

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

hrp0092p2-231 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Macroprolactinoma Presenting with Pituitary Apoplexy Associated with Middle Cerebral Artery Infarction in an Adolescent Male

Newbold Sally , Arya Ved Bushan , Kapoor Ritika , Thomas Nick , Fox Krystal , Aylwin Simon , Buchanan Charles

Background: Pituitary apoplexy is a clinical syndrome caused by haemorrhage of the pituitary gland, typically characterised by acute confusion, headache, vomiting and visual disturbance. It is regarded as a medical emergency. It is rare in childhood and adolescence, occurring in association with pituitary tumours. We report an unusual case of pituitary apoplexy associated with a cerebral infarction secondary to internal carotid artery compression.<p class=...

hrp0082p1-d3-91 | Diabetes (2) | ESPE2014

Feasibility and Acceptability of Robot Assistant in Self-management of Type 1 Diabetes in Children

Al-Taee Majid , Abood S , Garrett Christopher , Choudhary Pratik , Kapoor Ritika R

Background: Robot assisted therapy has the potential to provide emotional and educational support to young patients with type 1 diabetes (T1DM).Objective: To investigate the attitudes of children and young people with T1DM and that of their parents towards the concept of utilising a humanoid robot as an assistant in the management of their diabetes.Methods: A humanoid robot programmed to help self-management of T1DM at home was int...

hrp0082p2-d3-499 | Endocrine Oncology | ESPE2014

GH-Secreting Pituitary Adenoma with Gigantism: a Challenging Case

Chinoy Amish , Ismail Dunia , Kalitsi Jennifer , Gordon Nadia , Bullock Peter , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

hrp0097p1-90 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Low-Dose Diazoxide Therapy in Hyperinsulinaemic Hypoglycaemia

Yi-Lin Ng Amy , Agarwal Pankaj , Vijayan Roopa , B Arya Ved , R Kapoor Ritika , Shah Pratik

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

hrp0097p1-293 | GH and IGFs | ESPE2023

Healthcare professionals’ perceptions on the quality and evolution of digital health devices to support paediatric growth hormone therapy: Results of a UK participatory study

Rivera-Romero Octavio , R Kapoor Ritika , Mathew Verghese , Tollerfield Sally , Shah Pratik , Banerjee Indraneel , Koledova Ekaterina

Background: Long-term treatment with recombinant human growth hormone (r-hGH) is often challenging for children and adolescents, their caregivers and healthcare professionals (HCPs), as treatment requires daily injections over several years. Connected digital health devices facilitate this by automating the injection process to improve comfort, reduce anxiety and collect GH treatment data so that accurate adherence information is available to HCPs in real-time...

hrp0097p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Neurobehavioural impairments in children with septo-optic dysplasia spectrum conditions: A systematic review

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

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...

hrp0097p1-191 | Thyroid | ESPE2023

Paediatric Graves’ Disease: Presentation, Treatment and Follow up. A Single Centre Experience from United Kingdom.

Vijayan Roopa , Kapoor Ritika , Agrawal Pankaj , Buchanan Charles , Chapman Simon , Arya Ved

Objective: To describe a cohort with paediatric Graves disease followed between 2012 and 2022 at King’s College Hospital, London.Materials and Methods: Retrospective study of 36 patients treated with block and replace regimen of anti-thyroid drugs with a median (range) follow up of 4.25 (1.1-10.8) years. Demographic, clinical, biochemical and treatment data were collected from clinical records. Predictive factors f...