hrp0095p2-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Is Platinum-Based Chemotherapy resulted Hypomagnesemia in a Girl with Osteosarcoma? A Case Report

Novina Novina , Aprilianti Dea , Faisal Faisal , Melani Sari Nur , Suryawan Nur , Susanah Susi , Milanti Dewi Mia , Hawani Dewi , Solek Purboyo , Amalia Risan Nelly

Introduction: Magnesium is the second most abundant intracellular cation, and its low level causes several side effects related to hypoparathyroidism, hypocalcaemia, and vitamin D deficiency. Furthermore, some of the cases of hypomagnesemia are linked to platinum-based chemotherapy, resulting in neurotoxicity and nephrotoxicity. Dorsal root ganglion is the main target of platinum drugs, whereby its signs and symptoms can be detected months after chemotherapy. ...

hrp0092rfc15.6 | Late Breaking Abstracts | ESPE2019

Absence of Puberty and Estrogen Resistance by Estrogen Alpha Receptor Inactivation in Two Sisters: A Mutation for Variable Phenotypic Severity

Delcour Clémence , Khawaja Nahla , Mammeri Hedi , Drira Leila , Chevenne Didier , Ajlouni Kamel , De Roux Nicolas

Introduction: Estrogens play an essential role in reproduction and their peripheral action is mediated via nuclear alfa and beta receptors (ER) as well as membrane receptors. To date, only 3 females and 2 males from 3 families with a loss of function of ERa have been reported. The phenotype in these families was strongly suggestive of an estrogen resistance with an absence of a complete puberty, a delay in epiphyseal maturation with high estradiol levels and e...

hrp0092ha2 | Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves ß-Cell Survival and Function Under Cytokine-Induced Inflammation | ESPE2019

Partial CRISPR/Cas9 IL1R1 & IFNGR1 Knock-Down Improves β-cell Survival And Function Under Cytokine-Induced Inflammation

Daems Caroline , Vanderroost Juliette , Sokal Etienne , Lysy Philippe

Type 1 diabetes (T1D) is a chronic disease characterized by the autoimmune destruction of pancreatic β cells. This destruction is mediated by lymphocytes T helper and cytotoxic, and by the action of the pro-inflammatory cytokines IL1β, IFNγ and TNFa inside the islets of Langerhans. We propose a new approach to alleviate islet inflammation by targeting pro-inflammatory cytokine receptors. Our hypothesis is that the downregulation of inflammatory pathways ma...

hrp0092t9 | Top 20 Poster | ESPE2019

Empagliflozin and GABA Improve β-Cell Mass and Glucose Tolerance in New-Onset Type 1 Diabetes

Daems Caroline , Welsch Sophie , Boughaleb Hasnae , Vanderroost Juliette , Robert Annie , Sokal Etienne , Lysy Philippe

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0082p3-d1-621 | Adrenals & HP Axis | ESPE2014

The Effect of Working in a Children’s Hospital on Urinary Catecholamine Excretion Rates in Male and Female Physicians

Boettcher Claudia , Peitzsch Mirko , Eisenhofer Graeme , Wudy Stefan A

Background: Working as a physician is accompanied by emotional and physical stress.Objective and hypotheses: Our study aimed to investigate the effect of working day and night in a children’s hospital on catecholamine excretion as a marker for acute stress and to work out possible gender differences.Methods: 22 paediatricians (ten females, 12 males) aged 27–41 years collected four 12-h urine samples: two during a 24 h-shi...

hrp0097rfc12.2 | Thyroid | ESPE2023

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Blackburn James , Ahmed Shahida , van Meijgaarden Birgit , Gaston-Massuet Carles , Gevers Evelien

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

hrp0097p2-292 | Late Breaking | ESPE2023

Accuracy of opportunistic height measurements in a tertiary pediatric hospital in Riyadh

Almulhem Beshaier , Babiker Amir , Awadalla Asma , Masud Nazish , Albraikan Ahmed , Almutairi Bassam , Al Dubayee Mohammed , Abed Omer

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...

hrp0098p1-105 | Thyroid 1 | ESPE2024

Presentation and outcome of ATA-Pediatric low-risk differentiated thyroid carcinoma (PLR-DTC) with high-invasive molecular alterations

Papendieck Patricia , Eugenia Masnat Maria , Boycho Marisa , Colli Sandra , Victoria Preciado Maria , Lorenzetti Mario , Arcari Andrea , Chiesa Ana

PLR-DTC patients defined as having a tumor grossly confined to the thyroid with minimal or no central lymph nodes comprises 40% of all pediatric DTC followed-up in our center. High-invasive molecular alterations (HIMA) have been reported recently in around 57% of these patients with a still not clear explanation on their influence in outcome.Objective: To report the characterization of a small group of PLR-DTC patients who were positive ...

hrp0098p3-63 | Diabetes and Insulin | ESPE2024

Diabetes Mellitus in children with pancreatitis. Report of three cases

Vergara Sebastian , Valderrama Camila , Valladares Gabriela , Pino Consuelo , Sanchez Paulina , Linares Jeannette

We report three cases of patients with pancreatitis that developed diabetes mellitus (DM). Case 1: 8,9 years old female, treated with valproic acid (VPA) for epilepsy. Who is admitted with 5 days of abdominal pain, vomiting and altered state of consciousness, in the ER the patient was dehydrated and initial labs showed glycemia of 423 mg/dl. She was admitted to the ICU, further studiesResults: amylase 502 U/L, lipase 1491 U/L, HbA1c 5.4%...