hrp0098p2-94 | Fat, Metabolism and Obesity | ESPE2024

Phenotype, Genotype and Follow-up of Pediatric Hypertriglyceridemia: An Indian Perspective

Banerjee Sayan , George Arun , Nanda Pamali , Bala Anju , Dayal Devi

Objective: Pediatric hypertriglyceridemia (HTG), has considerable phenotypic and genotypic variability. We aim ed to describe the clinical and genotypic profile of Indian children presenting with severe HTG.Methods: This retrospective study (January 2022-December 2023) was conducted in children up to 12 years of age. Those presenting with severe HTG (triglycerides >500 mg/dL) were included after exclusion of known sec...

hrp0098fc1.2 | Diabetes and Insulin | ESPE2024

Effect of hydroxychloroquine therapy in newly diagnosed type 1 diabetes: a randomised, double-blind, placebo-control pilot trial

George Arun , Kumar Rakesh , Patil Amol , Sachdeva Naresh , Yadav Jaivinder , Jacob Neenu , Banerjee Sayan , Nanda Pamali , Bala Anju

Background: Hydroxychloroquine sulfate (HCQS) is an immunomodulatory drug used to treat various rheumatological conditions. However, its effect on preserving β-cell function in type 1 diabetes remains unclear.Objective: To determine the differences in C-peptide (fasting and post mixed meal) and HbA1c in children with new-onset T1D on hydroxychloroquine therapy versus placebo.Methods:</...

hrp0098p1-127 | Diabetes and Insulin 3 | ESPE2024

Molecular Characterization, Clinical phenotype and Long-Term Outcomes in Neonatal Diabetes Mellitus: nearly two decades of experience in a tertiary care pediatric diabetes clinic in north India

Kumar Rakesh , Dayal Devi , George Arun , Banerjee Sayan , Yadav Jaivinder , Bala Anju , Nanda Pamali , Evans Molly , Mohan Vishwanathan , Venkateshan Radha

Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder that typically occurs within the first 6 months of life. However, there is limited information from India about the clinical characteristics, treatment, and long-term outcomes for children with NDM. This study aims to provide a comprehensive overview of one of India's largest cohorts of children with NDM. These children were treated at a single referral center in North India over a ...

hrp0089p2-p045 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0084p1-10 | Adrenal | ESPE2015

Use of a Cord Blood Fluorescein Labeled Dexamethasone Monocyte Binding Assay to Study the Glucocorticoid Receptor in Neonates

Kashyap Arun , Aisenberg Javier , Ghanny Steven

Background: Glucocorticoids play an important role in the developing fetus, the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity in this population would be helpful, especially in the preterm ...

hrp0092p3-82 | Diabetes and Insulin | ESPE2019

Assessment of Testicular Volume by Ultrasound in Children and Adolescents with Type 1 Diabetes

Lohiya Nikhil , Khadilkar Vaman , Khadilkar Anuradha , Kinare Arun

Introduction: Poorly controlled type 1 diabetes affects the hypothalamic pituitary axis and is likely to have a negative impact on spermatogenesis and result in infertility. Further, a chronic complication of diabetes may also be angiopathy of testicular vessels. Thus, at our center for children with diabetes, testicular ultrasound evaluation is performed on adolescent boys with duration of diabetes> 2 years.Objective</strong...

hrp0092p3-181 | Multisystem Endocrine Disorders | ESPE2019

Phenotype and Clinical Course in Three Individuals with Multiple Endocrine Neoplasia Type 2A due to a RET Gene Mutation

Panou Evangelia , Chrousos George

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

hrp0098p2-344 | Late Breaking | ESPE2024

Fluorescence-Guided Laparoscopic Near-Total Pancreatectomy: An Innovative Approach for Infants with Diffuse Congenital Hyperinsulinism—A Case Series

Atiq Elham , Dastamani Antonia , Kelay Arun , Stoyanov Danail , Giuliani Stefano , De Coppi Paolo

Introduction: Open near-total pancreatectomy remains the standard treatment for medically unresponsive diffuse Congenital Hyperinsulinism (CHI). This procedure involves significant postoperative morbidity, prolonged recovery and a high risk of adhesions. Minimally invasive surgery (MIS) near-total pancreatectomy in infants with diffuse CHI may reduce these complications but is challenging due to the risk of common bile duct (CBD) injuries. Intraoperative compl...

hrp0094p2-34 | Adrenals and HPA Axis | ESPE2021

Maternal primary adrenal cortex insufficiency during pregnancy: Spotlight on the Fetus and the Neonate. A systematic review and meta-analysis.

Ilia Georgia , Paltoglou George , Chatzakis Christos , Christopoulos Panagiotis , Mastorakos George ,

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

hrp0098p1-111 | Adrenals and HPA Axis 2 | ESPE2024

Investigating Changes in Plasma Aldosterone Concentrations Following ACTH Stimulation in Healthy Individuals: A Systematic Review and Meta-Analysis on the Influence of ACTH on Aldosterone Secretion

Stathori Galateia , Alexakis Dimitrios , Panagiotis Chrousos George , Paltoglou George

Adrenocorticotropic hormone (ACTH) in addition to renin-angiotensin- aldosterone axis is a potent aldosterone stimulator, suggesting a potential contribution in conditions associated with increased ACTH concentrations. This review aims to systematically review and synthesize the scientific evidence of alterations of plasma aldosterone concentrations in response to ACTH stimulation during the cosyntropin (Synacthen) test and define the range of aldosterone response. A systemati...