hrp0095p1-47 | Diabetes and Insulin | ESPE2022

Congenital hyperinsulinism: a case with a missense monoallelic heterozygous ABCC8 mutation responsive partially to diazoxide therapy

Tien Son Do , Phuong Thao Bui , Ngoc Khanh Nguyen , Thi Bich Ngoc Can , Hoang Lan Nguyen , Thi Tu Anh Dao , Trong Thanh Nguyen , Thi Thanh Mai Do , Thi Anh Thuong Tran , Chi Dung Vu

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...

hrp0095hdi2.1 | How Do I… Session 2 | ESPE2022

How do I …Manage communication with families after onset of T1D?

Lange Karin

Even today, the majority of families are caught completely unprepared by the diagnosis of diabetes in their child. The "bad news" hits them like a bolt from the blue and calls into question the future plans of parents and children. The first talk with the paediatric diabetologist, in which the diagnosis is communicated and the therapy is roughly outlined, sets the course for the acceptance of diabetes in the family and the long-term trusting cooperation with the diab...

hrp0095p1-539 | Multisystem Endocrine Disorders | ESPE2022

Rett Syndrome Patients: Do They need Pediatric Endocrinologist’s care?

Pepe Giorgia , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Aversa Tommaso , Wasniewska Malgorzata

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...

hrp0092p3-329 | Late Breaking Abstracts | ESPE2019

Dysphagia and Dyspnea by Lingual Thyroid Mass in a Young Child: What To Do?

Merad Mohamed Samir , Mohammedi Fatiiha , Benouis Amina

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

hrp0086p2-p661 | Growth P2 | ESPE2016

‘First Do No Harm’: Growth Hormone (hGH) Treatment in a Case of Recurrent Craniopharyngioma

Zmau George-Sebastian , Armasu Ioana , Beleceanu Alina , Bursuc Anamaria , Puiu Mirela , Poeata Ion , Preda Cristina , Vulpoi Carmen

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

hrp0082p2-d2-278 | Adrenals & HP Axis (1) | ESPE2014

Do Neonates Need a Short Synacthen Test to Investigate the Adrenal Axis?

Niranjan Usha , Franklin Victoria , Bashir Imran , Martin Sarah , Gibson Alan , Wright Neil , Dimitri Paul

Background: There is limited evidence regarding the most appropriate method to investigate adrenal dysfunction in neonates. Our unit in Sheffield, UK measures a series of three serum cortisol levels to determine the need for a short synacthen test (SST). Other units use the SST as the first-line investigation in suspected adrenal insufficiency in neonates; however SST is more invasive with anaphylactic risk.Objective and hypotheses: To determine the prop...

hrp0082p2-d3-405 | Fat Metabolism & Obesity (2) | ESPE2014

Do Children with Down Syndrome Show Lipid Profile Disorders?

Zimny Dominika , Szatkowska Marta , Maciaszek Julian , Machaj Mikolaj , Barg Ewa

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk. The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children with DS (41 boys), average age...

hrp0082p3-d1-772 | Fat Metabolism & Obesity | ESPE2014

Do Children with Down Syndrome Show Lipid Profile Disorders?

Zimny Dominika , Szatkowska Marta , Maciaszek Julian , Machaj Mikolaj , Barg Ewa

Background: People with Down syndrome (DS) are considered to be atherosclerosis-free. However, obesity predispositions and thyroid gland dysfunction that accompanies this syndrome can influence on the heart ischemic risk.Aim: The aim of the study was the evaluation of lipid profile of children with DS and estimation of omega-3 supplementation effect on serum lipid profile.Materials and methods: The group constituted 69 children wit...

hrp0097rfc5.6 | Diabetes and insulin 1 | ESPE2023

Do females with Type 1 Diabetes have puberty earlier?

Cordero Pearson Andrea , Lucía Gomez Gila Ana , Navarro Moreno Constanza

Background: In the past, the majority of the pacients with Type 1 Diabetes (DM1) had late puberty due to hipogonadotropic hipogonadism as a result of insulin deficiency. However, the use of intensive insulin therapy nowadays, results in higher BMI what can lead to an earlier puberty. Insulin administered subcutaneously is not processed by the liver, which implies increased exposure to this hormone in the ovary leading to greater activation of theca and granulo...