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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 1

Multisystem Endocrine Disorders

hrp0092p1-236 | Multisystem Endocrine Disorders | ESPE2019

Serum Endocan Levels as a Marker of Endothelial Dysfunction in Turner Syndrome and Correlation with Cardiac Findings

Gencay Ali Genco , Darendeliler Feyza , Nisli Kemal , Karaca Serra , Kardelen Asli Derya , Poyrazoglu Sükran , Bas Firdevs

Background: The most common reason for the increased mortality and morbidity in TS, which results from partial or complete deficiency of an X chromosome in a female, is acquired cardiovascular disease, which is the result of endothelial dysfunction that causes atherosclerosis. Endocan, an inflamatory marker, has been found elevated in several diseases with endothelial dysfunction (ED). There is no study of endocan levels in TS.Ob...

hrp0092p1-237 | Multisystem Endocrine Disorders | ESPE2019

The Effects of Fetal Electromagnetic Field Exposure on Expression of Anxiety Behavior and Associated Genes in Adolescent Period

OKSUZ Hale , OCAL Isil , AKILLIOGLU Kubra , ILGAZ Nermin Seda , OZPAK Lutfiye , KARACAY Seray , OKSUZ Halil Ibrahim , COBAN Fatma , SANGUN Levent , YILMAZ Mehmet Bertan

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...

hrp0092p1-238 | Multisystem Endocrine Disorders | ESPE2019

Positive correlation between circulating irisin concentrations and homeostatic model assessment for insulin resistance (HOMA-IR) in women with Polycystic Ovary Syndrome: a Meta-analysis

Bacopoulou Flora

Background: Irisin has emerged as a potential mediator of energy expenditure that may improve adiposity and glucose homeostasis. Irisin's metabolic benefits in animal models are convincing, but only promising regarding humans. Irisin's secretion by and its potential roles in several tissues have been associated with insulin resistance (IR). In modern societies, health problems associated with IR are quite common. One such condition, the enigmatic polyc...

hrp0092p1-239 | Multisystem Endocrine Disorders | ESPE2019

Unusual Presentation of Autoimmune Polyglandular Syndrome Type 1 (aps1)

Vuralli Dogus , Tan Cagman , Gulsen Hayriye , Unsal Yagmur , Ayvaz Deniz Cagdas , Demir Hulya , Ozon Alev , Alikasifoglu Ayfer , Tezcan Ilhan

Introduction: Autoimmune polyendocrinopathy type 1 (APECED) is an autosomal recessive disease caused by loss of function mutations of autoimmune regulatory (AIRE) gene. Characteristically, early onset ectodermal dysplasia, mucocutaneus candidiasis is followed by hypoparathyroidism and primary adrenal insufficiency usually within the first two decades. Although clinical features may be variable, recently, it is suggested that population characteristics and natu...

hrp0092p1-240 | Multisystem Endocrine Disorders | ESPE2019

Association of Tuberous Sclerosis Complex (TSC) and Insulinoma in a Pediatric Patient

Saredo Ana Tangari , Flores Adriana , Giaccaglia Silvia , Parias Rodrigo , Jorro Facundo , Dadvison Brenda , Gonzalez Javiera , Bastianello Maria , Korman Luciano , Bielsky Laila , Sol Bupo , Bujan Maria Marta , Burdet Sofia , Sandra Tilitzky

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

hrp0092p1-241 | Multisystem Endocrine Disorders | ESPE2019

A Novel DCAF17 Homozygous Mutation in a Girl with Woodhouse-Sakati Syndrome and its Role in the Endocrine Glands

Kurnaz Erdal , Türkyilmaz Ayberk , Yarali Oguzhan , Demir Berrin , Çayir Atilla

Background: 46,XX gonadal dysgenesis is a rare condition linked to delayed puberty, absence of spontaneous pubertal development, and primary amenorrhea related to hypergonadotropic hypogonadism (Hh). External genitalia are typically female with no ambiguity. Although ovarian development is an active process with multiple gene involvement, the genetic etiology of this condition is usually unknown. DCAF17 has recently been implicated in the development ...

hrp0092p1-242 | Multisystem Endocrine Disorders | ESPE2019

Basal Metabolic Rate in Polycystic Ovary Syndrome: A Meta-Analysis

Geronikolou Styliani , Kanaka-Gantenbein Christina , Bacopoulou Flora

Background: While polycystic ovary syndrome (PCOS) is implicated with insulin resistance and obesity, little is known about the abnormal energy imbalance contribution to the disease. Basal metabolic rate (BMR) represents the energy expenditure by a normal subject at rest, remote from eating, in a thermally neutral environment, reflecting the 50–70% of total daily metabolism. The relevant literature is limited with conflicting results- worth meta-analy...

hrp0092p1-243 | Multisystem Endocrine Disorders | ESPE2019

A Nation-Wide Questionnaire Survey Targeting Japanese Pediatric Endocrinologists Regarding Transitional Care in Pediatric and Adolescent Cancer Patients

Miyoshi Yoko , Yorifuji Tohru , Yokoya Susumu , Nagasaki Keisuke , Kawai Masanobu , Ishiguro Hiroyuki , Okada Satoshi , Kanno Junko , Takubo Noriyuki , Muroya Koji , Ito Junko , Horikawa Reiko , Shimizu Chikako , Ozono Keiichi

Background: While existing guidelines recommend long-term follow-up of childhood cancer survivors (CCS), transitional care among pediatric and adult endocrinologists has not been established in Japan.Objective and Hypotheses: To know the present situation and to cultivate a better understanding, we had conducted a nation-wide survey targeting Japanese pediatric endocrinologists.Method</stro...

hrp0092p1-244 | Multisystem Endocrine Disorders | ESPE2019

Two Different Endocrine Cancer, One Disease; DICER-1 Mutation

Tatli Zeynep Uzan , Direk Gül , Özcan Alper , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Autosomal dominant DICER1 mutations are among the causes of early-onset familial cancer. DICER1 mutation has been shown in pleuropulmonary blastomas as well as ovarian tumors, thyroid, parathyroid, pituitary, adrenocortical and testicular tumors. It is important to be aware of the risk for the development of other cancers in the follow-up of these cases.Cases: Case-1: Previously known to be healthy 8,5-year-old girl presented with compla...

hrp0092p1-245 | Multisystem Endocrine Disorders | ESPE2019

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Manyas Hayrullah , Çatli Gönül , Eroglu Filibeli Berna , Ayranci Ilkay , Özdemir Taha Resid , Dündar Bumin Nuri

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

hrp0092p1-246 | Multisystem Endocrine Disorders | ESPE2019

Knowledge of the Natural History of Paediatric MEN1 is Required to Inform Decision Making for Predictive Testing in Childhood

Park Julie , Collingwood Catherine , Weber Astrid , Blair Joanne

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a dominantly inherited syndrome characterised by parathyroid hyperplasia, pancreatic neuroendocrine tumours (PNET) and pituitary adenomas, although >20 tumours are described. Clinical guidelines1 recommend annual biochemical surveillance and abdominal imaging from <10yrs and pituitary imaging every 3yrs. Age at start of surveillance is derived from the youngest reported patient with a...

hrp0092p1-247 | Multisystem Endocrine Disorders | ESPE2019

One AIRE Gene Mutation and Two Different Clinical Manifestations in a Couple of Brothers

Timpanaro Tiziana , Bizzarri Carla , Sauna Alessandra , Caruso-Nicoletti Manuela

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

hrp0092p1-248 | Multisystem Endocrine Disorders | ESPE2019

A Novel AIRE Gene Mutation in Two Siblings Revealing Different Phenotypes of Autoimmune Polyendocrine Syndrome Type 1

Yildiz Melek , Aydin Banu , Gezdirici Alper , Onal Hasan

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autoimmune disease characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency. Minor components of the disease are diverse among patients, even within the same family. APS-1 is autosomal recessively inherited and caused by biallelic mutations in the autoimmune regulator (AIRE) gene.Objective and Hypotheses...