ESPE Abstracts

Objective: Endocrine disorders following acute lymphoblastic leukemia (ALL) treatment are notable in high-risk groups and those receiving high-dose chemotherapy due to bone marrow transplantation (BMT) or relapse. This study investigates endocrine effects after ALL treatment.Methods: The study included cases diagnosed with ALL during childhood between 1995 and 2020, treated with the BFM-1995 protocol, and followed for at...

Raine Syndrome (RS) caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. RS usually lethal during neonatal period due to severe respiratory distress. However, a non-lethal RS form existed with very limited description in literature.Objective: To increase awareness about non-lethal RS form.Case Description:</strong...

Background: Previous research demonstrated that survivors of childhood acute lymphoblastic leukemia (ALL), treated on the Italian Association of Pediatric Hematology and Oncology (AIEOP) protocols without radiotherapy between 1989 and 2000, generally achieve a normal final height with a body mass index (BMI) within the normal range. Nevertheless, their height catch-up growth is not fully restored after chemotherapy and BMI increases during treatment. In female...

Introduction: PTEN hamartoma tumor syndrome (PTHS), a rare genetic disorder, increases the risk of endocrine-related benign and malignant tumors like thyroid, endometrial, breast, and kidney tumors, as well as syndromes like Cowden syndrome (CS), which can cause genodermatosis. The MUTYH gene increases colon cancer risk. Pathogenic MUTYH and PTEN gene variants are autosomal dominantly inherited and 50% likely to pass on.<p class=...

Antibodies to GAD-65 have been associated to type 1 diabetes and different neurological disorders, however these diseases rarely occur concurrently. In this report, we present a rare pediatric case of concurrent GAD-65 antibody positive autoimmune encephalitis and type III autoimmune polyendocrine syndrome (coexisting with autoimmune thyroid disease and type 1 DM). A 7-year-old Chinese female patient presented with a 2-month history of idiopathic seizures. Laboratory tests rev...

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplastic manifestations across various organ systems, primarily driven by mutations in the PRKAR1A gene. The most common clinical effects are on the adrenocortical axis. This study seeks to dissect the clinical heterogeneity observed in CNC patients with PRKAR1A mutations, emphasizing the adrenocortical axis and its impacts on patient outcomes.C...