ESPE Abstracts

Background: H2O2 produced in large quantities in the thyroid may play a role in the pathogenesis of thyroid nodules and cancer. In vitro, moderate amounts of H2O2 are able to cause similar DNA damage compared to irradiation and even to induce RET/PTC rearrangements.Objective and hypotheses: We compared the defence mechanisms against H2O2 and irradiation in human thyrocytes, T-cell...

Introducion: Autoimmune thyroid diseases (AITDs): Hashimoto's thyroiditis (HT) and Graves’ disease (GD) are common chronic autoimmune endocrine disorders in children. The mechanisms leading to the development of these diseases remain unknown, however scientific reports indicate that in addition to environmental factors, genetic background plays an important role. In our previous studies, we showed that some polymorphisms of the genes for IL2RA, FAIM...

Introduction: Pubertal growth is hormone dependent. The anthropometric (height, weight) and sexual (Tanner stage (TS)) changes are accompanied by growth in foot length. However, the relationship between changes in foot length and other anthropometry remains unclear. Our aim was to determine how changes in foot length relate to growth parameters (height and weight), self-rated TS and serum sex steroids.Methods: We used data from the Adolescent Rural Cohor...

We assessed the risk of metabolic syndrome in children and adolescents who were classified using the tri-ponderal mass index (TMI) with data from the Korea National Health and Nutrition Examination Survey (KNHANES). Data from 10-18-year-old subjects that were overweight or obese (n=1,362) were extracted from the KNHANES 2007-2018. Weight classifications were determined by TMI and included overweight and Class I, Class II, and Class III obesity. The standard deviation ...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-y...

Objective: Dental plaque removal is an important factor in preventing periodontal diseases and caries. Tooth brushing remains the most reliable method of controlling dental plaque. The purpose of this study was to compare the effectiveness of plaque control performed with a battery powered and manual toothbrushes in over-weight adolescents.Materials and methods: The twenty two adolesents with over-weight were attended in this study. These patients were d...

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

Context: It has recently been shown that mutations of MKRN3, the gene encoding makorin RING-finger protein 3, lead to central precocious puberty (CPP). The aim of this study was to investigate mutations of the MKRN3 gene in Korean girls with CPP.Methods: Two hundred and sixty Korean girls with idiopathic CPP were included in this study. Auxological and endocrine parameters were measured. The entire MKRN3 gene was directly seque...

Introduction: Down syndrome (DS) is a common condition and its association with disorders of sex development (DSD) is quite rare.Case report: We report four DS patients with DSD. Patient 1: 22 days old, undefined sex. 2.5 cm phallus, non-palpable gonads, and perineal urethra. Testosterone=332 ng/dl (at 1 mo), uterus on ultrasound, 47,XY +21 karyotype. A gonadoblastoma on the left gonad and a streak on the right. Dx – DSD Mixed Gonadal Dysgenesis. Pa...

Background: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...