ESPE Abstracts

Introduction: Type 1 Diabetes (T1D) is an autoimmune disease where β-cells of the pancreatic islets are destroyed. The vast majority of T1D cases are not due to genetic predisposition, implying that the prevalence is associated with environmental, nongenetic factors. One such factor is the microbiome and its correlation with T1D has been investigated in a multitude of studies.Aims: To investigate whether the curr...

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...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

Congenital hypothyroidism (CH) is a partial or complete loss of function of the thyroid gland resulting in absent or decreased synthesis and secretion of thyroid hormones affecting infants since birth. Mutations of the hTPO gene are associated with autosomal recessive forms of CH. Based on our TSH screening results, the number of children with eutopic primary CH is increasing. Molecular biology techniques can identify the CH genetic cause after selection based on family histor...

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...

Background: Continuous glucose monitoring (CGM) correlates with optimal control in both children and adults with type 1 diabetes (T1D) regardless of type of treatment. CGM plays a major role in decreasing the time spent in hypoglycemia and hyperglycemia, and achieving better quality of life.Aim: To evaluate the usage and benefits of out-patient CGM and assess parents’ attitudes to it at a non-reimbursed setting.Methods: A tota...