ESPE Abstracts

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

Introduction: To achieve glycemic control goals in patients with type 1 diabetes (T1D), they are instructed in three fundamental principles: diet, insulin therapy and physical activity. Physical activity recommendations for children and adolescents with T1D are the same as for the general population. Following the physical activity recommendations helps mitigate the increased cardiovascular risk inherent to DM. We set out to explore the degree of glycemic cont...

Background and aim: C-peptide is an important indicator of endogenous insulin release. Our aim was to investigate the association of serum C-peptide levels with age, BMI and insulin doses in newly diagnosed type 1 diabetic (DM1) children.Metods: The patients with newly diagnosed DM1 were enrolled the study and classified as DM1A and DM1B. Clinical and laboratory findings of all the patients were recorded. Daily insulin doses, BMI and its z score were cal...

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

Background: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence GH responsiveness and somatic growth.Objective and hypotheses: This study aimed to assess the effects of IGFBP3 promoter polymorphism on growth in children.Method: Restriction fragment length polymorphism (RFLP)-based genotyping of the -202 single nucleotide...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Congenital hypopituitarism (CH) is a highly variable disorder affecting 1:3000 - 1:4000 live births, and is characterized by deficiencies in one or more of the 7 pituitary hormones, with growth hormone (GH) being the most frequently-occurring deficiency. It may be associated with a range of syndromic features including visual impairment, midline brain abnormalities and facial clefting. The development of the pituitary gland is closely associated with that of the forebrain and ...