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...

hrp0092p2-179 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Unusual Case of Patient with Klinefelter Syndrome with Shox Deletion Born to the Mother with Leri-weill Dyschondrosteosis

Krnic Nevena , Huljev Frkovic Sanda , Dumic Kubat Katja , Braovac Duje , Uroic Anita Spehar

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...

hrp0089p2-p377 | Thyroid P2 | ESPE2018

Effects of Thyroid Autoimmunity on Non-Alcoholic Fatty Liver Disease in Euthyroid Girls with Hashimoto’s Thyroiditis

İşguven Pınar , Ersavaş Dilek , Ersavaş Mehmet , Elmas Bahri

Introduction and Aim: The aim of this study was to investigate whether autoimmune Hashimoto’s thyroiditis (HT) increases the incidence of non-alcoholic fatty liver disease (NAFLD). In addition, the relationship between autoimmunity and the following factors was evaluated: Body Mass Index (BMI), body parameters measured by Bioelectric Impedance Analysis (BIA), and metabolic syndrome parameters.Methods: 43 newly diagnosed euthyroid girls with HT (14.4...

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...