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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 2

Multisystem Endocrine Disorders

hrp0095p2-202 | Multisystem Endocrine Disorders | ESPE2022

AgRP neurons mediate sex differences in response to the activity-based anorexia model

Consolata Miletta Maria

Anorexia nervosa (AN) is a multifaceted and debilitating illness characterized by self-induced starvation, persistent anxiety about weight gain, preoccupation with body image, and maladaptive food choices. It is characterized by the disruption in homeostatic energy balance mechanisms and the persistence of homeostatic hunger is overridden by dysfunctional self-regulatory and reward pathways that drive food aversion and severely restrict food intake. Epidemiological studies hav...

hrp0095p2-203 | Multisystem Endocrine Disorders | ESPE2022

A Case of SHOX Deletion Due to Isodicentric Y Chromosome Anomaly with Multiple Endocrine Disorders

Orman Burçe , Karacan Küçükali Gülin , Guleray Lafcı Naz , Özkaya Dönmez Beyhan , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Isodicentric-Ychromosome;has phenotypic findings such as gonadal dysgenesis, short stature, Turner syndrome in girls, infertility in boys, and insufficient virilization. Here, a case with growth retardation, short statureand infertility findings, and isodicentric-Ychromosomal anomaly(in addition to tuberosclerosis) who underwent endocrine follow-up due to obesity will be presented.Case: The patient, who was...

hrp0095p2-204 | Multisystem Endocrine Disorders | ESPE2022

Early detection of gastrointestinal polyps and neoplasia following radiation for childhood-onset cancer

Atlas Gabby , Zacharin Margaret

Exposure to abdominal radiation for childhood cancer has been associated with an increased risk of gastrointestinal polyps and neoplasia. These patients have a similar risk of developing colorectal cancer (CRC) as those with two or more first-degree relatives with CRC. There has been an inconsistency in clinical practice guidelines, partly due to limited evidence that treatment-associated colorectal cancer has a preceding screen-detectable phase. The previous recommendation fr...

hrp0095p2-205 | Multisystem Endocrine Disorders | ESPE2022

A novel mutation of AIRE gene in a patient with Autoimmune Polyglandular Syndrome type I (APS1), a case report

Tautiva-Rojas Maria-Camila , Pacheco Mariana , Santamaria-Quesada Carlos , Bogarin-Solano Roberto

Introduction: Autoimmune Polyglandular Syndrome Type I (APS1) is a rare condition caused by mutations in the AIRE gene (autoimmune regulator). The diagnosis is challenging and delayed due to its non-specific clinical manifestations such as candidiasis, hypoparathyroidism and hypoadrenalism. More than a hundred mutations of this gene have been described and hereby we present a girl who was found to have a novel mutation of AIRE gene with patho...

hrp0095p2-206 | Multisystem Endocrine Disorders | ESPE2022

Rare association of hyperinsulinemic hypoglycemia in a pediatric patient with oculofaciocardiodental syndrome and mother with neuroendocrine pancreatic tumor

Tarna Mihaela , Oprescu Raluca , Iliescu Marina , Cima Luminita , Fica Simona

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

hrp0095p2-207 | Multisystem Endocrine Disorders | ESPE2022

Bisphenol A (BPA): A Hidden Enemy

Grau Gema , Andrade Fernando , Vela Amaya , López Oceja Raquel , Rica Itxaso

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...

hrp0095p2-208 | Multisystem Endocrine Disorders | ESPE2022

Precocious puberty before and after the COVID-19 pandemic

Gök Ebru , Sarıkaya Emre , Kara Leyla , Berber Uğur , Gül Şiraz Ülkü , Hatipoğlu Nihal

Introduction: A novel coronavirus defined as coronavirus disease 2019 (COVID-19) was first detected in China at the end of 2019 and spread rapidly all over the world. As the covid 19 pandemic has led to changes in life all over the world, the prognosis of diseases have also been affected. This study presents how early puberty has been affected during the pandemic period.Method: A total of 210 subjects; 113 individuals (9...

hrp0095p2-209 | Multisystem Endocrine Disorders | ESPE2022

Fahr's syndrome in children: About 2 cases

Berrabeh Soumiya , Elmehraoui Ouafae , Messaoudi Najoua , Assarrar Imane , Rouf Siham , Latrech Hanane

Keywords: Basal ganglia calcifications, hypoparathyroidism, farh's diseaseIntroduction: Fahr syndrome is a rare anatomical-clinical entity, defined radiologically by the presence of bilateral, symmetrical, non-arteriosclerotic triatopallidodentate calcifications. Its diagnosis is radiological, and must be distinguished from Fahr's disease, which corresponds to the presence of calcifications without abnormalitie...

hrp0095p2-210 | Multisystem Endocrine Disorders | ESPE2022

Glucose dysregulation and Diabetes mellitus in ROHHAD syndrome - possibly centrally driven?

Hawton Katherine , Candler Toby , Hamilton-Shield Julian , Giri Dinesh

Background: Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare syndrome with a high risk of morbidity and mortality. Blood glucose dysregulation is not widely recognised as a feature of ROHHAD and the mechanism is not well understood. We describe glucose dysregulation in two children with ROHHAD syndrome.Case 1: The patient presented at 6 years with rapid w...

hrp0095p2-211 | Multisystem Endocrine Disorders | ESPE2022

McCune Albright Syndrome in children- Case series from a Tertiary Care Centre- Sri Lanka

Siriwardhane Dinendra , Atapattu Navoda , Naotunna Chamidri , Hashim Raihana , Premathilake Dilusha , Gunasekara Buddhi , Suntharesan Jananie , De Silva Dimarsha , Lakmini Chamila , Gamage Senani

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...

hrp0095p2-212 | Multisystem Endocrine Disorders | ESPE2022

Endocrinological Evaluation in a Case with WAGR Syndrome

Karacan Küçükali Gülin , Yeşil Şule , Aygün Arı Demet , Çetinkaya Semra , Bülbül Mehmet , Sezer Abdullah , Aycan Zehra , Toprak Şule , Savaş Erdeve Şenay

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

hrp0095p2-213 | Multisystem Endocrine Disorders | ESPE2022

Clinical and endocrine characteristics of Algerian children with McCune -Albright Syndrome:

Kerkouche Soraya , Ladjouze Asmahane , Bouzerar Zahir

Introduction: McCune-Albright Syndrome (OMIM #174800) is a mosaic disorder, characterized by “café-au-lait” spots, fibrous dysplasia, and autonomous hyper function of one or more endocrine organs, within the peripheral precocious puberty remains the most common manifestation. This disease is caused by GNAS gene activating mutations.Objective: To describe clinical and endocrine characteristics in ten pa...