hrp0098fc12.2 | Thyroid | ESPE2024

Molecular Characterization of Childhood Thyroid Nodules and Thyroid Cancer with DNA/RNA Next Generation Sequencing and Investigation of Phenotype-Genotype Correlation

Aycan Zehra , Kızılcan Çetin Sirmen , Karadağ Kıvrak Hale , Ceyhan Koray , Şıklar Zeynep , Berberoğlu Merih , Özsu Elif , Suat Fitöz Ömer , Dizbay Sak Serpil

Background: Our study aimed to determine the molecular characterization of thyroid nodules and cancer in childhood and investigate the genotype-phenotype relationship.Methods: The pre-postoperative clinical follow-up features and genetic characteristics of 62 patients were evaluated. Next-generation sequencing (NGS) was used to investigate common variants in thyroid lesions with sufficient tissue in the pathology archive...

hrp0098p1-32 | Diabetes and Insulin 2 | ESPE2024

Factors Associated with Pump Set Occlusion

Tuğçe Tunca Küçükali Elif , Kuşkanadı Büşra , Özdemir Uslu Zülal , Akın Agâh , Muratoğlu Şahin Nursel , Çetinkaya Semra

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

hrp0098p1-272 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Nonfunctioning pituitary adenomas in childhood: A single-center experience

Hürmüzlü Közler Selen , Koçyiğit Esra , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Anık İhsan , Çizmecioğlu Jones Filiz

Introduction: The clinical spectrum of nonfunctioning pituitary adenomas (NFPA), which are rare in childhood, varies from asymptomatic to hypopituitarism and/or severe compression-associated symptoms. We present the diagnosis, follow-up, and treatment of pediatric NFPA cases evaluated in a pituitary referral center.Methods: Data of patients aged <18 years and diagnosed with NFPA between 2002 and 2024 were reviewed ret...

hrp0098p1-293 | Thyroid 3 | ESPE2024

Genetic Etiology in Congenital Hypothyroidism

Gürpınar Gözde , Böke Koçer Gizem , Koçyiğit Esra , Hürmüzlü Közler Selen , Parıltay Erhan , Akın Haluk , Huw Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Numerous genetic defects have been identified in relation to congenital hypothyroidism (CH). In recent years, with the increased accessibility of molecular genetic analysis, CH etiology is better understood. We evaluated patients followed with a diagnosis of CH who were diagnosed using next-generation sequencing analysis.Methods: The study included 19 cases (10 females,52.6%). Patients with thyroid gland <e...

hrp0098p2-23 | Adrenals and HPA Axis | ESPE2024

Adrenal Lesions Evaluated in A Pediatric Endocrinology Department

Hürmüzlü Közler Selen , Böke Koçer Gizem , Gürpınar Gözde , Koçyiğit Esra , Tuğçe Aygün Sibel , Jones Jeremy , Çizmecioğlu Jones Filiz

Introduction and Aim: Adrenal lesions (AL) in childhood present with a variety of clinical features, and their evaluation can be challenging. Diagnosis and follow-up should be evaluated on a case-by-case basis. Adrenal hemorrhage (AH) can be seen in infants due to sepsis and prematurity. Adrenal incidentalomas (AI) are detected in imaging performed without suspicion of adrenal disease. We aimed to present the characteristics of the cases evaluated for AL.<...

hrp0098p2-129 | Fat, Metabolism and Obesity | ESPE2024

Evaluation of genetic etiology and genotype-phenotype association in endogenous obesity

Koçyiğit Esra , Hürmüzlü Közler Selen , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Many genes have now been identified in which rare, high penetrant variants cause obesity, accounting for ~10% of children with severe obesity.Aim: To describe clinical characteristics, genetics, and associated comorbidities in pediatirc endogenous obesity due to rare genetic obesity syndromes.Methods: After excluding patients with obesity due to endocrine disturbances...

hrp0098p3-184 | Multisystem Endocrine Disorders | ESPE2024

A Case Presenting with Breast Asymmetry: Diagnostic Process with Associated Syndromic Features

Neslihan Bildik Hacer , Esen Senem , Sezer Abdullah , Şeyma Oğuzalp Sevim , Eldem Veli , Muratoğlu Şahin Nursel , Çakır Gündoğan Seçil , Çetinkaya Semra

Subclavian artery disruption sequence explains the development and association of Poland, Klippel-Feil, and Moebius anomalies with the hypothesis of vascular etiology. Herein, the coupling of Klippel-Feil-Poland-Moebius Syndromes and the diagnostic process in a patient who presented to our outpatient clinic with breast asymmetry will be discussed. At the age of 11 years and 10 months, the patient presented with breast asymmetry (smaller left breast-hypotelia). The patient&apos...

hrp0095p1-517 | Growth and Syndromes | ESPE2022

Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

Pınar Öztürk Ayşe , Aslanger Ayça , Karakılıç Özturan Esin , Nur Konur Esma , Güleç Çağrı , Karaman Volkan , Yıldız Melek , Yeşil Gözde , Toksoy Güven , Poyrazoğlu Şükran , Baş Firdevs , Karaman Birsen , Oya Uyguner Zehra , Başaran Seher , Darendeliler Feyza

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

hrp0095p1-392 | Thyroid | ESPE2022

Clinical Features, Risk Classifications and Long-Term Follow Up Of Childhood Differentiated Thyroid Cancer(DTC): A Single Reference-Center Experience

Aycan Zehra , Çetin Sirmen Kızılcan , Zeynep Şıklar , Elif Özsu , Fitöz Suat , Ceyhan Koray , Yağmurlu Aydın , Göllü Bahadır Gülnur , Ünal Emel , Taşyıldız Nurdan , Kır Metin , Soydal Çiğdem , Berberoğlu Merih

Background: Thyroid cancers are rare in childhood. ATA guideline (Pediatric section) has been applied in daily practice since 2015. It is very significant to accurately predict the risk in the management of differentiated thyroid cancer(DTC). For this purpose, we shared our single center-20-year-experience about the follow-up features and management of childhood and adolescent thyroid cancer. We aimed to evaluate the dynamic risk stratification (DRS) and the o...

hrp0098p1-33 | Diabetes and Insulin 2 | ESPE2024

A Case of Mild Clinical Course MODY9

Akın Agâh , Sezer Abdullah , Arı Hasan , Görkem Erdoğan Nilay , Orman Burçe , Esen Senem , Tuğçe Tunca Küçükali Elif , Özdemir Uslu Zülal , Berna Çelik Ertaş Nur , Muratoğlu Şahin Nursel , Çetinkaya Semra

Introduction: ‘Maturity-Onset Diabetes of the Young ‘(MODY) 9 is a rare subtype of MODY, resulting from mutations in the ‘Paired Box Gene 4’ (PAX4) on chromosome 7q32.1. PAX4 is mainly expressed in pancreatic islet cells, playing a crucial role in the development, differentiation, proliferation, and survival of insulin-producing β-cells during embryonic stages, as well as in β-cell regeneration in adulthood. Mutations in PAX4 ...