ESPE Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

The aim of this study is to evaluate the modifiable factors of metabolic risk among survivors of childhood acute lymphoblastic leukemia (ALL) treated at a single center in comparison with healthy controls.Forty-seven long-term survivors, aged 9-32 years were compared to 35 age- and sex-matched controls. Anthropometric features and laboratory findings were assessed. The body composition was measured by Dual-energy X-ray absorptiometry (DEXA). The physical...