hrp0084p2-330 | Fat | ESPE2015

Abdominal fat Distribution Measured by Magnetic Resonance Imaging in 197 Children Aged 10–15 Years – Correlation to Anthropometry and Dual X-Ray Absorptiometry

Tinggaard Jeanette , Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Wohlfahrt-Veje Christine , Fallentin Eva , Larsen Rasmus , Christensen Anders N , Jensen Rikke B , Juul Anders , Main Katharina

Background: Obesity in childhood is defined by age- and sex-specific BMI cut-off values. However, BMI does not disclose the distribution of fat mass. Increased abdominal adipose tissue is associated with a higher risk of cardio-metabolic disease in adulthood. Thus, precise measurements of abdominal adipose tissue in children may enable early prevention of disease.Objective and hypotheses: To validate measurements of abdominal adipose tissue by anthropome...

hrp0097p1-233 | Diabetes and Insulin | ESPE2023

Diabetes Behind the Mask

Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü Közler Selen , Kilci Fatih , Gür Aykut Gizem , As Yeşilorman Sıdıka , Küçükkeskin , Huw Jones Jeremy , Mine Çizmecioğlu Jones Sema Filiz

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

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.<...

hrp0098p2-72 | Diabetes and Insulin | ESPE2024

Neonatal Diabetes Due to Insulin Gene Mutation

Bakır Gizem , Büyükinan Muammer , Bora Ulukapı Hasan , Melek Oğuz Melahat , Öner Nergiz , Fettah Ali , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: IPEX Syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) is characterized by mutations in the Forkhead BoxP3 (FOXP3) transcription factor, leading to autoimmunity in various organs starting in the perinatal period. This syndrome manifests with proliferative lesions in the thyroid gland, gastrointestinal system, skin, and other organs. We report a case of a 4-month-old male with neonatal diabetes, resistant thrombocytopenia,...

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...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

hrp0084fc5.3 | Endocrine Oncology/Turner | ESPE2015

Screening in Children with Succinate Dehydrogenase B (SDHB) Mutations: a Single Centre’s Family Clinic Experience

Shapiro Lucy , Srirangalingam Umasuthan , McAndrew Lorraine , Martin Lee , Tufton Nicola , Kumar Ajith , Drake William , Akker Scott , Storr Helen

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

hrp0095p1-26 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Outcomes of four patients with osteonecrosis after one-year pamidronate treatment

Yüksek Acinikli Kübra , Besci Özge , Yaşar Elif , Tüfekçi Özlem , Karadağ Zehra , Yıldız Gizem , Torun Rüya , Akın Kağızmanlı Gözde , Torun Bayram Meral , Yılmaz Şebnem , Güleryüz Handan , Abacı Ayhan , Böber Ece , Demir Korcan

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...