ESPE Abstracts

Introduction: In pediatric age range pituitary hyperplasia (PH) defines a reversible enlargement due to increase in the number in one or more hormone-producing cell types. It can occur as a normal response to physiological stimulation (puberty, pregnancy) or as a pathological condition. PH secondary to primary hypothyroidism (PHT) is a common finding. Long-standing severe PHT induces PH via thyrotropin-releasing hormone (TRH).Cas...

Introduction: Prolactinomas represent 50% of all pediatric pituitary adenomas. Microadenomas (tumors with less than 40 mm in maximum diameter) and giant prolactinomas (more than 40 mm in maximum diameter and prolactin levels > 1000 μg/L) are more commonly found in boys. Giant prolactinomas are rare, but invasive, accounting for 1–5% of prolactin-secreting tumors. We hereby report a female patient with neuro-ophthalmic symptoms (headaches and left 3...

Introduction: Fanconi anemia (FA) is a hereditary genomic instability syndrome characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. At the molecular level, FA is caused by pathogenic variants in the FA/BRCA DNA pathway, responsible for DNA repair. FA phenotype include heterogeneous physical abnormalities, with two main associations: VACTERL-H (vertebral abnormalities, anal atresia, <strong...