ESPE Abstracts

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

Background: Children with congenital heart disease (CHD) are predisposed to growth failure, due to the decreased intake of nutrients and also due to the increased energy requirements. Growth failure represents a frequent cause of increase of both morbidity and mortality in children with CHD.Objective and hypotheses: Assessment of physical development in children with CHD and identification of significant factors that influence z scores.<p class="abst...

Background: Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycaemia. Current treatment lacks efficiency, and so are methods for differential diagnosis of diffuse and focal histological forms. Novel diagnostic and treatment approaches with the use of another hormone – glucagon-like-peptide-1 (GLP-1) – have been developed. GLP-1 is one of the key factors for maintaining euglycaemia. It stimulates insulin secretion...

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

Background: In the last 50 years bone age has been manually evaluated using the method of Tanner and Whitehouse. Recently automated image analysis has been introduced for bone age determination. The automated method shows good agreement with manual evaluation; further, the precision of the automated method may be higher compared to the manual method.Objective and hypotheses: To report on the discrepancy of bone age determination using the manual TW2 meth...

Background: Treatment with GH in children born small for gestational age (SGA) increases height velocity (HV) but data on adult height (AH) are scarce.Objective and hypotheses: To report AH in a group of SGA children treated with GH.Method: This is a post-marketing longitudinal analysis of SGA children treated with GH and included in France in KIGS. Selection criteria were children followed at least one year and having reached AH b...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...

Background: Cytosine-guanine(CpGs) sites in molecules identified as methylated or unmethylated; the combination of them in the genetic sequence of an individual includes a methylation haplotype (methyl-haplotype) for a specific locus. The insulin gene promoter(IGP) is highly regulated by methylation mechanisms, which lead to alteration of gene expression.Aim: To identify IGPmethyl-haplotypes among children/adolescents wi...