hrp0095p1-590 | Thyroid | ESPE2022

Immunoglobulin Superfamily 1 (IGSF1) Deficiency: A Rare Cause of Isolated Congenital Hypothyroidism in Two Siblings

MacGloin Helen , Bhushan Arya Ved , Schoenmakers Nadia , Buchanan Charles

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

hrp0097p2-287 | Late Breaking | ESPE2023

Central diabetes insipidus in paediatric cerebral tumors: clinical and radiological features

Criscuolo Sabrina , Partenope Cristina , Bhushan Arya Ved , Albanese Assunta

Introduction: Paediatric brain tumours in the sellar-suprasellar region (SSR) are often associated with central diabetes insipidus (CDI), either at diagnosis caused by the tumour itself or during follow-up as consequence of treatments.Aims: To define the timing of CDI onset and radiological features on brain MRI in our cohort.Methods: We retrospectively analysed paediatric patients...

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...

hrp0097p1-395 | 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...

hrp0097p2-144 | Growth and Syndromes | ESPE2023

Beyond the surface: A Tale of Uncovering the True Diagnosis

Vijayan Roopa , Fox Krystal , Parmar Hannah , Kapoor Ritika , Buchanan Charles , Bhushan Arya Ved

Introduction: In a large series, approximately 65% of boys with delayed puberty have constitutional delay in growth and puberty (CDGP). We report an adolescent male who presented with delayed puberty and managed as presumed CDGP. Unexpected pubertal progression while receiving treatment made us question the diagnosis of CDGP.Case-report: A 15-year-old African adolescent male presented with delayed growth and puberty. He ...

hrp0097p1-360 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Management of central diabetes insipidus in disabled children with diluted oral desmopressin lyophilisate formulation administered through nasogastric tube

Anıl Korkmaz Hüseyin , Bhushan Arya Ved , Gönüllü Ahmet , Coşkunol Fulya , Özkan Behzat

Background: Experience with nasogastric administration of oral DDAVP [desamino-D-arginine-8-vasopressin] lyophilisate (ODL) for central diabetes insipidus (CDI) in disabled children with swallowing coordination difficulties is limited.Objective: We aimed to assess the safety and efficacy of nasogastric use of ODL in disabled children with CDI.Methods: Clinical, laboratory and neuro...

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...

hrp0097p1-448 | Fat, Metabolism and Obesity | ESPE2023

The Association between Vitamin D deficiency and Hepatosteatosis in Obese Children and Adolescents. (Underreview in Hormone Research Journal- HRP-2023-1-19)

Anil Korkmaz Huseyin , Bhushan Arya Ved , Barisik Vatan , Atila Dincer , Coskunol Fulya , Alci Serra , Ertug Cekdemir Yasin , Torlak Derun , Ozkan Behzat

Objective: To compare the serum 25-hydroxy Vitamin D [25(OH)D] concentrations in children and adolescents with obesity with and without hepatosteatosis, and investigate the relationship between serum 25(OH)D concentrations and severity of hepatosteatosis. We also aimed to assess the effect of vitamin D treatment after 6 months on hepatosteatosis and liver biochemistry.Methods: One hundred thirty-three obese patients with...