ESPE Abstracts

Background: Vitamin D is an essential hormone in the homeostasis of calcium. Its main source is sun exposure. Changes in lifestyle and migratory movements have favored the reappearance of vitamin deficiency in our country.Method: We present three cases of newborn with hypocalcemic seizures, secondary to maternal vitamin D deficiency. Mother’s origin was North Africa.Results: Case 1: 7 days old male brought for several episodes...

Background: Recent years bring a lot of data of the important role of vitamin D in different physiological processes, including a prevention from pathological states.Objective and hypotheses: The aim of the study was to analyze associations between serum level of vitamin D and some markers of glucose and lipid metabolism but also as well bone-related molecules as adipokines and in children and adolescents.Method: 57 patients, 40 wi...

In children and adolescents, vitamin D deficiency negatively affects muscle physiology, exposing them to increased muscle damage and pain, stress fractures, and tendon structures. In addition, free radicals released when the body is exposed to oxidative stress after exercise can cause DNA damage. Vitamin D plays an important role in removing these radicals. The purpose of this study is to investigate the relationship between physical activity and 25- OH vitamin D in obese chil...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

Introduction: Benign breast pathology has a frequent onset during puberty-adolescence.Objectives: Differential evaluation of breast echostructure in puberty stage III/V, on Tanner scale, depending on the presence of thyroid autoimmunity and hypovitaminosis D.Method: Assessment of BIRADS score from 2 to 4 in three groups of girls associating premenstrual mastodynia: Group 1 - including patients with chronic autoimmune thyroiditis an...

Background: Prader–Willi Syndrome (PWS) is a genetic disorder associated with hyperphagia and hyperghrelinemia with major morbidity due to obesity. The aetiology of hyperphagia is unknown, but presumed to be multifactorial, and, as ghrelin is orexigenic, high levels may contribute to weight issues in PWS. Currently, there is no effective medical treatment for hyperphagia in PWS, but targeting appetite could be beneficial. Exenatide (Byetta (synthetic exendin-4); AstraZene...

Studies show that vitamin D deficiency can have negative effects on glucose homeostasis, although the mechanism for this is still unclear. The possible mechanism may be related to the presence of vitamin D receptors and their metabolizing enzymes in insulin-sensitive cell types, such as pancreatic cells and adipocytes. The aim of this study is to compare how serum 25- OH D level and HOMA-IR index are related to acanthosis nigricans (AN) and which of them is a better marker for...

Backgroud: SarsCov2 infection began to spread worldwide since December 2019 and, on March 2020, the World Health Organization characterized its related disease, named COVID-19, as a pandemic. In Italy, to contain the spread of infection a severe lockdown from March 10th, 2020 to May 4th, 2020 was instituted. Other less severe restrictions were imposed in the winter 2020-2021 and in the spring 2021. The containment measures caused a series of consequences for t...

Background: Low bone mineral density (BMD) in patients with Turner syndrome (TS) has been reported in a considerable number of previous studies. Cortical and trabecular bone have been involved. Osteoporosis can be over diagnosed in TS patients with a short stature unless BMD measurements are adjusted for body size. Optimization of bone health in girls with TS requires a healthy active lifestyle, including adequate calcium, vitamin D, and hormonal replacement therapy, according...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...