ESPE Abstracts

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

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: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

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...

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 &pm; 2.7 years) from the Korea National Health and Nutrition Examination Survey (KNHANES) 2016-2017. T...

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...

Case Report: Two cases of type 2 diabetes mellitus (among which 1 case of metabolic syndrome) previously taken as type 1 diabetes mellitus in adolescents are presented and the evaluation and management are discussed. There was a family history of Diabetes mellitus in one of the adolescent. Both of them had signs of insulin resistance, they were overweight and obese respectively, poorly controlled on premix insulin. The laboratory test revealed a high HbA1C, dy...

Introduction: There is a growing interest in the relationship between obesity and renal damage. Chronic kidney disease is accepted as an important complication of obesity in adulthood. However, information on association between childhood obesity and renal functions is limited. In this study, It is aimed to investigate the renal functions in obese children and adolescents.Patients and methods: We enrolled 107 obese children and adolescents as a study gro...

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

Background: GH is fundamental in skeletal growth during puberty, however detailed studies of body composition analyses in adolescents with GH deficiency on GH therapy are scarce. Moreover, there are few studies on the psychologic aspects of hrGH therapy in this population.Objective and hypotheses: In this case-control study, we investigated differences in body composition based on bio-impedance measurements between adolescents with idiopathic GH deficien...