ESPE Abstracts

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.<p class="abstex...

Background: Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. Earlier and proper treatment is associated with better intellectual outcomes.Objective and hypotheses: The aim of the present study was to evaluate intellectual outcome of children with diagnosed congenital hypothyroidism (CH) and early onset treatment.Method: We retrospectively reviewed the medical record of 43 childre...

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: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

Background: GnRH agonist (GnRHa) are able to modify natural course of Central Precocious Puberty (CPP) in girls.Objective and hypotheses: We evaluated the etiology and the effect of GnRHa in Korean CPP boys.Method: Total 29 boys diagnosed for CPP from 2007 to 2012 were included in Ajou University Medical Center. Sellar MRI was performed in 26 of 29 patients (89.7%). CPP was diagnosed on the basis of i) onset evidence of testicular ...

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...

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...

Introduction: Skeletal muscle plays a crucial role in glucose disposal, and studies have shown a positive relationship between muscle mass and insulin sensitivity. However, an elevated lean mass has also been associated with metabolically adverse outcomes. This study aimed to evaluate the association between the risk of metabolic syndrome (MetS) and lean mass using dual-energy X-ray absorptiometry (DXA) in a nationally representative sample from the Korea Nati...

Purpose: The aim of this study is to investigate the influence of body mass index (BMI) on therapeutic effect in prepubertal children with idiopathic growth hormone deficiency (IGHD).Methods: We conducted a retrospective study by chart review in a single center. A total of 138 patients (male n=90, female n=48) with idiopathic growth hormone deficiency who were was treated growth hormone for at least 2 y...