hrp0095p1-417 | Adrenals and HPA Axis | ESPE2022

A patient with autoimmune polyglandular syndrome type 1 with atypical presentation

Bazdarska Yuliya , Yordanova Nikolinka , Hristozova Hristina , Krumova Darina , Iotova Violeta

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...

hrp0095p2-182 | Growth and Syndromes | ESPE2022

Persistent leukocytosis in a Noonan syndrome-neurofibromatosis type 1 patient treated with recombinant human growth hormone

Deyanova Yana , Iotova Violeta , Hristozova Hristina , Kaleva Valeria

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...

hrp0092p1-350 | Fat, Metabolism and Obesity (2) | ESPE2019

Metabolic Risk in Long-Term Survivors of Childhood Acute Lymphoblastic Leukemia

Belcheva Milena , Iotova Violeta , Usheva Nataliya , Bocheva Yana , Popova Ralitsa , Pancheva Ruzha , Hristozova Hristina , Kaleva Valeriya

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...