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...

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...

hrp0097p1-395 | Thyroid | ESPE2023

Thyroid Storm with Diabetes Insipidus: Management of A Rare Endocrine Presentation In A Child

Agrawal Pankaj , R Kapoor Ritika , R Buchanan Charles , Bhushan Arya Ved

Introduction: Thyroid storm is an acute, life-threatening, emergency in children with thyrotoxicosis. It is extremely rare and could be an initial presentation in previously undiagnosed children. Thyroid storm with diabetes insipidus (DI) has been reported in adults, but no cases have been reported in children. We herein report a child with thyroid storm with transient central DI.Case Report: A 7-year-old girl, presented...

hrp0097p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Oxytocin Improved Neurobehavioural Dysfunction in an Adolescent Post-Craniopharyngioma Surgery: A case report

Mann Amy , Fox Krystal , Kalitsi Jennifer , R Buchanan Charles , Bhushan Arya Ved , Paloyelis Yannis , R Kapoor Ritika

Background: Craniopharyngioma is a benign tumour that develops in the sellar and surrounding parasellar regions, including the hypothalamus and the pituitary gland responsible for the production and regulation of neuropeptides. Oxytocin is a hypothalamic neuropeptide that has been identified as a key modulator of appetite drive and social cognition. Here, we present a case of parent-observed improvements in neurobehavioural dysfunction following administration...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...