hrp0098p3-22 | Adrenals and HPA Axis | ESPE2024

X-linked adrenoleukodystrophy: a case series

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

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...

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...