ESPE Abstracts

Objectives: Modern treatments lead to increased survival rates from childhood cancer. Childhood cancer survivors (CCS) are a growing population group, which is at high risk for cardiometabolic disorders including metabolic syndrome, type 2 diabetes and cardiovascular disease. Obesity is one of the major drivers of these adverse outcomes, resulted from corticosteroids, radiotherapy, sedentary behavior, and precancer obesity. Assessment of obesity could identify...

Objectives: Childhood cancer survivors (CCS) are a growing population group. Current oncology treatments have led to improved patient survival rates and an increase in late effects of treatment. Endocrine disturbances, such as pituitary insufficiency, thyroid dysfunction and obesity are the most common late endocrine effects of oncology treatments. The purpose of the study was to investigate the endocrine health of CCS and to record the prevalence of late endo...

Background: Deficiency of 21-hydroxylase (CYP21A2) is responsible of 90-95% of all cases of congenital adrenal hyperplasia (CAH). CYP21A2 converts 17OHprogesterone into 11deoxycortisol and is encoded by the CYP21A2 gene on chromosome 6p21.3, within the class III region of the highly polymorphic HLA histocompatibility complex. CAH refers to a group of autosomal recessive disorders. Nonclassic CAH (NCAH) is milder and more common, however it may not be identifie...

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic defects in cortisol synthesis caused by the deficiency of 21-hydroxylase which convert 17-hydroxyprogesterone to 11-deoxycortisol. A variety of mutations in one or more genes encoding enzymes essential for cortisol synthesis leads to a spectrum of disorders and disease severity. In general, complete or nearly complete enzymatic defects result in overt adrenal insufficien...

Objective: To report the incidence of thyroid dysfunction of patients who underwent allogenic BMT during childhood.Patients and Methods: Eighty-two patients (56 boys) who were transplanted from an HLA matched donor at a mean age of 7.5±4.8 years (range 0.18–17.5 years) were followed prospectively having measurements of fT4, TSH twice yearly, using chemiluminescence. Patients with elevated TSH higher than 8 μIU/ml had a repeat evaluation in...

Background: Adrenal crisis is a life-threatening condition caused by either primary adrenal insufficiencyor hypothalamic-pituitary-adrenal (HPA) axis dysfunction, commonly due to chronic use of high-dose glucocorticoids. Clinical presentation, often with gastrointestinal symptoms (weakness, nausea, vomiting, epigastric pain) poses clinical challenges, sometimes leading to an incorrect diagnosis of gastroenteritis.Material:</stron...

Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune...

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Background: Nail-Patella syndrome (NPS) or hereditary onycho-osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia, patellar aplasia or hypoplasia, nephropathy and intra-ocular hypertension. The diagnosis confirmes by pathogenic variant in the LMX1B gene. There are reports of short stature in patients with this syndrome, however, data of the use of somatropin have not been presented. We describe the ...

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....