ESPE Abstracts

Background: The course of type one diabetic disease (T1DM) varies according to the period of life and in response to various external or internal factors. Adolescence is an evolutionary phase that involves important developmental changes and identity construction. Diabetes disease and its management, especially in this life period, can lead to psychological distress and impact on Self-redefinition.Method: We conducted a ...

Introduction: This study describes the experience of introducing Nao, a humanoid robot, into a Summer Camp for children with diabetes (August 2013, Misano Adriatico, Italy), with the aim to provide them a companion capable to support and motivate. Our goal was to investigate if, Nao’s interactions with children could positively affect the adherence to specific medical recommendations during their stay. Namely children were asked to fill in a specific nutritional diary. Th...

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

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...

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

Background: Prenatal dexamethasone (DEX) treatment is in many countries offered to the pregnant woman, at risk of having a child with classic congenital adrenal hyperplasia (CAH), to reduce virilization in an affected female fetus. The treatment is effective in reducing virilization but may give long lasting effects on somatic and cognitive health. Here, we explore the potential effect on metabolism in children and adults not having CAH and exposed to DEX during the first trim...

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders, affecting around 1/10 000 newborns worldwide. Postnatally, patients with classic CAH are treated with life-long glucocorticoid (GC) replacement therapy, such as hydrocortisone or prednisolone, and in the more severe cases also with mineralocorticoids. A negative impact of GCs on human cognition such as memory deficits have been reported bot...

Children and adolescents with obesity and clustering of cardiometabolic risk factors, such as hypertension, dyslipidemia, and prediabetes are exposed to endothelial damage, vascular and myocardial remodeling, and atherosclerosis. If not adequately treated, these alterations may contribute to early morbility and mortality for adverse cardiovascular events in adulthood. Physical activity (PA) plays an important role in the treatment of obesity and its cardiometabolic comorbiditi...