hrp0084p2-227 | Bone | ESPE2015

Longitudinal Bone Development in Patients with Classical Congenital Adrenal Hyperplasia: Data Using Peripheral Quantitative Computed Tomography

Bechtold Susanne , Duman Leyla , Weissenbacher Claudia , Roeb Julia , Pozza Robert Dalla , Schmidt Heinrich

Background and aims: Glucocorticoid treatment may influence bone and muscle development in patients with congenital adrenal hyperplasia (CAH). This study evaluated bone mineral density (BMD), bone geometry and muscle mass longitudinally throughout childhood.Methods: 18 patients (ten males, eight females) with classical CAH were included. BMD, bone geometry and muscle mass were measured using peripheral quantitative computed tomography (pQCT) in prepubert...

hrp0084p3-1140 | Puberty | ESPE2015

A Novel GLUT1 Mutation in a Patient with Apparently Normal Cerebrospinal Fluid Glucose Level

Ustyol Ala , Duman Mehmet Ali , Hatipoglu Halil Ugur , Elevli Murat , Duru Hatice Nilgun Selcuk

Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that ma...

hrp0098p2-242 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Single Centre Experience in the Management of Childhood Prolactinoma

Boke Kocer Gizem , Hurmuzlu Kozler Selen , Huw Jones Jeremy , Gurpinar Gozde , Kocyigit Esra , Tugce Aygun Sibel , Duman Öztürk Seda , Çabuk Burak , Mine Cizmecioglu Jones Filiz

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

hrp0098p1-274 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Somatotropinomas in Pediatric Endocrinology Practice: Single Center Experience

Gürpınar Gözde , Uzuner Ayşe , Duman Öztürk Seda , Hürmüzlü Közler Selen , Koçyiğit Esra , Böke Koçer Gizem , Tuğçe Aygün Sibel , Gürkan Hakan , Emecen Ayyıldız Durdugül , Huw Jones Jeremy , Ceylan Savaş , Mine Çizmecioğlu Jones Filiz

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...