ESPE Abstracts

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

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...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...

Key words: Insulin resistance, triglycerides to high-density lipoprotein cholesterol-(HDL-C), HOMA-IR.Background: Childhood Obesity is a chronic metabolic disease. The fundamental disorder related to obesity is Insulin Resistance (IR). The gold standard method to measure IR is by use the hyper insulinemic euglycemic clamp, rarely performed in children because of its invasiveness, complexity, time consumption and high cos...

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

Background: The hypothalamic–pituitary–adrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....

XY individuals with Disorders/Differences of Sex development (DSD) are characterized by reduced androgenization caused, in some children, by gonadal dysgenesis or, more rarely, testis regression during early fetal development. The genetic etiology for most patients with 46,XY gonadal dysgenesis and for all patients with testicular regression syndrome (TRS) is unknown. Identification of novel genes involved in DSD is crucial for providing an accurate clinical diagnosis, aiding ...

Background: The GHR-exon3 and the -202 A/C IGFBP3 polymorphisms have been suggested to affect responses to recombinant human GH (rhGH) therapy in some individuals with short stature. This study aimed to assess the influences of the two polymorphisms on treatment outcomes in patients with GH deficiency (GHD).Method: In 72 (32 girls and 40 boys) children with confirmed diagnosis of GHD, genotyping and serial measurements of auxological and endocrinological...