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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 2

Multisystem Endocrine Disorders

hrp0092p2-203 | Multisystem Endocrine Disorders | ESPE2019

Clinical Manifestations & Molecular analysis of Thirteen Palestinian Families with Sanjad Sakatti Syndrome Revealing a Common Deletion Founder Effect and Another Two Novel Mutations

Abu-Libdeh Abdulsalam , Abedrabbo Amal , Abu-Libdeh Bassam

Objectives: Sanjad-Sakatti syndrome or hypoparathyroidism-retardation-dysmorphism syndrome (HDRs) is a rare autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay.Methods: Thirteen unrelated Palestinian infants to a consanguineous Palesti...

hrp0092p2-204 | Multisystem Endocrine Disorders | ESPE2019

Electromagnetic Fields Exposure in Adolescents: A Survey in 11-14 y Old Greek Students

Geronikolou Styliani , Chrousos George , Kanaka-Gantenbein Christina

Background: Electromagnetic field (EMF) exposure has been considered a potential environmental toxicant, which may influence endocrine and other functions, while population awareness remains limited. In an earlier study, we demonstrated that EMF alters the hypothalamic-pituitary-adrenal axis in children using a 3G mobile telephone.Aim: To screen and compare the motives, knowledge and status of electromagnetic field expos...

hrp0092p2-205 | Multisystem Endocrine Disorders | ESPE2019

Subcutaneous Ossifications in Children - Think About AHO!

Flury Monika , Quitter Friederike , Hiort Olaf , Huebner Angela

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

hrp0092p2-206 | Multisystem Endocrine Disorders | ESPE2019

Growth Outcomes in Growth Hormone Treated Indian Children with Celiac Disease

Ramachandran Smita , Kochar IPS

Objective: To evaluate the height outcomes with growth hormone (GH)therapy during gluten fee diet in celiac disease (CD) associated with growth hormone deficiency in associated with isolated GHD.Method: A retrospective study of 17 CD with growth hormone deficiency with 17 age and sex matched children with GHD were included in the study. Their pre and post treatment height and predicted height were evaluated.<p class=...

hrp0092p2-207 | Multisystem Endocrine Disorders | ESPE2019

Functional Ovarian and Thyroid Disturbances in a Group of Adolescents with Insulin Dependent Diabetes Mellitus and Vitamin D Deficiency

Seila Ibadula , Scrinic Olesea , Circo Eduard

Aim of the study: Assessment of the incidence of ovarian functional disorders correlated with thyroid disorders appreciated clinically, functional, and echostructural in a group of diabetic female teenagers according to 25-(OH)- vitamin D serum levels.Method: A group of 31 patients with diabetes mellitus and vitamin D deficiency (mean age 16.3 ± 1.3) was studied compared to a control group (43 teenagers) with diabet...

hrp0092p2-208 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Polyendocrine Sydrome Type I: A Neuroendocrine Multi-Systemic Disease with a Variable Expressivity

Carpino Andrea , Pinon Michele , Montin Davide , Tuli Gerdi , de Sanctis Luisa , Matarazzo Patrizia

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

hrp0092p2-209 | Multisystem Endocrine Disorders | ESPE2019

Endocrine Complications of Patients with Hepatic Type of Glycogen Storage Disease

Lee Yena , Kim Yoo-Mi , Oh Arum , Kim Gu-Hwan , Hee Lee Beom , Choi Jin-Ho , Yoo Han-Wook

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

hrp0092p2-210 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Thyroiditis and Autoimmune Hepatitis Presenting at Onset of Type 1 Diabetes (T1D)

Marchant Alice , Chizo Agwu Juliana

Background: Autoimmune disease (AD) occurs due to loss of immunological tolerance to self-antigens and can be organ specific or systemic. One in four patients with a single AD may develop another AD. The presence of three or more AD is described as multiple autoimmune syndrome (MAS) in which Type 3 subset includes autoimmune thyroiditis and T1D, but not autoimmune hepatitis. Type 2 Autoimmune Polyendocrine Syndrome can be diagnosed when T1D and autoimmune thyr...

hrp0092p2-211 | Multisystem Endocrine Disorders | ESPE2019

Ulnar Mammary Syndrome - A Case Report

Shetty Supreetha , Bhat Kavitha

Introduction: Ulnar mammary syndrome (UMS) is caused by a mutation of T-box transcription factor 3 (TBX3). It is a rare condition with only a few cases being reported in the literature. We report a child with ulnar mammary syndrome .Case Report: The patient presented to us at 14 years 6 months of age with concerns of failure to gain height which was noted from the age of 11years. His investigations were suggestive of gro...

hrp0092p2-212 | Multisystem Endocrine Disorders | ESPE2019

Unusual Ovary Formation in a Girl with McCune-Albright Syndrome

Makazan Nadezhda , Orlova Elizaveta , Artemova Alla , Vladimirova Victoria , Vorontsov Aleksandr , Kareva Maria , Peterkova Valentina

McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was est...

hrp0092p2-213 | Multisystem Endocrine Disorders | ESPE2019

Heart Rate Variability in Adolescent Polycystic Ovary Syndrome Greek Patients

Geronikolou Styliani , Cokkinos Dennis , Bacopoulou Flora

Background: The polycystic ovary syndrome (PCOS) is believed to contribute to adverse cardiovascular effects.Aim: The aim of the present study was to investigate the potential alterations in heart rate variability (HRV) pattern in adolescent patients with polycystic ovary syndrome (PCOS).Methods: Nineteen PCOS adolescent patients group (mean age 16.8 ± 3.2 years) and twenty on...

hrp0092p2-214 | Multisystem Endocrine Disorders | ESPE2019

Celiac Disease and Endocrine Autoimmunity in Children and Adolescents

Mitrogiorgou Marina , Karachaliou Feneli , Karalexi Maria , Georgantzi Maria , Kontaki Helen , Foukas Periklis , Triantafyllou Konstantinos , Fesssatou Smaragdi

Objectives: Celiac disease (CD) is a life-long inflammatory disease of the gastrointestinal tract that affects genetically susceptible individuals and is associated with several autoimmune diseases. The aim of the study was to evaluate the prevalence of coexistent autoimmune endocrine disorders in children and adolescents diagnosed with CD.Patients and Methods: Children diagnosed with CD in the Paediatric Gastroenterolog...

hrp0092p2-215 | Multisystem Endocrine Disorders | ESPE2019

Intestinal Ganglioneuromatosis as First Manifestation of Multiple Endocrine Neoplasia 2B in a Premature Girl

Leunbach Tina Lund , Madsen Mette , Nielsen Rasmus G , Hansen Dorthe , Mathiesen Jes S

Introduction: Multiple endocrine neoplasia 2B (MEN2B) is a rare cancer syndrome primarily caused by the M918T (95%) and A883F (<5%) germline mutations in the REarranged during Transfection (RET) proto-oncogene. Aggressive and early onset thyroid medullary carcinoma is the hallmark of the disease. Cure rates in M918T carriers who had thyroidectomy before and after 1 year of age were 83% and 15% respectively. More t...

hrp0092p2-216 | Multisystem Endocrine Disorders | ESPE2019

Hypothyroidism in a Two and a Half Year-Old Boy with an Angelman Syndrome (AS)

Janchevska Aleksandra , Bozinovski Georgi , Jordanova Olivera , Tasic Velibor , Gucev Zoran

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...