ESPE Abstracts

Background: There is increasing evidence of vitamin D deficiency world-wide resulting in nutritional rickets. With increasing use of fast foods and reducing appropriate physical activity. Our world is encountered with the problem of obesity which increases the risk of 25-hyroxy vitamin D deficiency.Objective and hypotheses: The aim of this study was to determine the status of serum 25(OH)D level in children 2–14 years old who visited in a pediatric ...

Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.Case p...

Objective: Most recent evidence from conducted in human and animal studies suggests that vitamin D has a potential role in the physiology of reproductive function in both genders. We investigate the role of vitamin D in male and female gonadal function at mini-puberty period with particular emphasis on production of sex steroids and gonadal peptide hormones. Additionaly, this study evaluated serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradio...

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

Objective: To compare the serum 25-hydroxy Vitamin D [25(OH)D] concentrations in children and adolescents with obesity with and without hepatosteatosis, and investigate the relationship between serum 25(OH)D concentrations and severity of hepatosteatosis. We also aimed to assess the effect of vitamin D treatment after 6 months on hepatosteatosis and liver biochemistry.Methods: One hundred thirty-three obese patients with...

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

Background: Vitamin D deficiency is prevalent in infants and children in underdeveloped countries. Secondary myelofibrosis has been reported as a complication of severe rickets and in these children anemia, myeloid metaplasia and bone aplasia strongly suggested myelofibrosis.Case report: We report a case of myelofibrosis in two years old boy with severe vitamin D deficiency rickets and hepatosplenomegaly. He presented wi...

Background: Vitamin D dependent rickets type II (VDDR II) is a rare autosomal recessive disorder, inherited due to mutation on vitamin D receptor (VDR) leading to end organ unresponsiveness to vitamin D. It is characterized by an early onset refractory rickets, hypocalcaemia, hypophosphatemia, growth retardation, hyperparathyroidism and elevated circulating levels of 1,25-dihydroxyvitamin D3 which is the hallmark of the disease.Objective and hypotheses: ...

Background: The lack of agreement in the definition of vitamin D deficiency may be due to differences in the study populations or in the assays used to measure 25OHD.Objective and hypotheses: The aim of this study is to evaluate the relationship between 25OHD and PTH, and define the level of vitamin D deficiency in a paediatric population.Method: Retrospective medical record of children (age: 0.1–18years, n=193) who v...

Congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency is an autosomal recessive disorder presenting as three phenotypes dependent on the residual enzyme activity: two classical ones (salt wasting and simple virilizing, SV) and the milder NCAH. All forms have increased adrenal androgens. Around 0.1% of Caucasians and up to several percent of certain ethnic groups are affected by NCAH. Most NCAH patients remain undiagnosed. Symptoms of NCAH may develop at any...