ESPE Abstracts

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

Background: Few studies have investigated the long-term effects of gonadotropin releasing hormone (GnRH) agonist treatment on reproductive function.Objective and hypotheses: We assessed ovarian function by analyzing serum anti-mullerian hormone (AMH) levels in central precocious puberty (CPP) girls according to GnRH agonist-treatment timing.Method: Our study included 505 CPP girls subdivided into five groups based on the timing of ...

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...

Objective: Obesity is associated with bone age (BA) advancement of unclear etiology. In animal study, insulin may directly modulate skeletal growth. Our objective was to investigate the association with BA maturation and insulin levels in children with overweight and obesity.Methods: In this cross-sectional study of 42 prepubertal children, anthropometric data and hormonal values during oral glucose tolerance test were measured. Subjects were divided int...

Background: The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents has increased worldwide. However, the epidemiology of T1DM among Korean children has not been reported since 2001.Objective and hypotheses: We therefore investigated the incidence of T1DM in Korean children and adolescents in 2012–2013 and compared it with data from 1995–2000.Method: Data were obtained from the National Health Insuran...

Background: GNRH agonist (GnRHa) has been widely used for decades to treat in patients with central precocious puberty (CPP). There are severe studies concerning changes in body composition in CPP patients following GnRHa treatment, but the results are inconsistent.Objective and hypotheses: The aim of this study was to investigate the change of BMI in children treated with GnRHa for 2 years. Also, the present study was performed to assess whether BMI aff...

Objectives: We investigated the trajectories in hemoglobin A1C (A1C) levels among transition-aged patients (age from 15 to 22 years) with type 1 diabetes (T1D).Methods: Among the patients diagnosed with type 1 diabetes in pediatric age between 2001 and 2013 in Seoul National University Children’s Hospital, 119 patients (54 males and 65 females) with a diagnostic age for under 14 and measurement of A1C at least once...

Background: The diagnosis of growth hormone deficiency (GHD) requires the subnormal responses to two provocation tests. This study evaluated the value of the growth hormone provocation test using arginine and insulin-induced hypoglycemia to diagnose growth hormone deficiency (GHD).Method: This study included 294 children with short stature (136 girls and 158 boys) who underwent a growth hormone provocation test using the...

Introduction: Adrenarche refers to the increase in adrenal androgen synthesis. However, process of adrenal androgen production in early childhood remains to be elucidated. The aim of this study was to evaluate changes in adrenal androgen levels and steroidogenic enzyme activities associated with adrenarche using a prospective cohort.Methods: A total of 229 children (124 boys, 52.4%), who had participated in the Envir...