ESPE Abstracts

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: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

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...

Childhood-onset growth hormone deficiency (CO-GHD) is topical at present due to the increasing understanding of underlying genetic aetiologies, influence on childhood growth, and future effects on adolescence and adult health. There is no previous Irish data of this group of children.Methods: A retrospective cohort study over 2 years (2013-2015) including all children diagnosed with GHD who received recombinant growth hormone treatment (rGH). Predictors ...

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

Purpose: Metabolic syndrome (MetS) is a state of chronic inflammation, and high-sensitivity C-reactive protein (hsCRP) indicates inflammation. This paper evaluates the association between hsCRP and MetS and its components in Korean children and adolescents.Methods: We analyzed the data of 1,247 subjects (633 males, 14.2 ± 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

Background and hypotheses: Urinary C-peptide creatinine ratio (UCPCR) is a new, non-invasive, economical test recommended in differential diagnoses of maturity-onset diabetes of the young (MODY). There are a few studies on this topic. UCPCR values were determined as >0.2 and >0.7 nmol/mmol with a high specificity and sensitivity in differential diagnosis in the previous two studies, the values were evaluated in only three MODY types (HNF1A/HNF4A/GCK-MODY). We investiga...

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...