ESPE Abstracts

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

Background: Cardiovascular disease is one of the most prominent causes of mortality world widely. A key related factor of atherosclerotic cardiovascular disease is the presence of dyslipidemia. Together with elevated blood pressure, obesity, and diabetes mellitus, dyslipidemia is a component of metabolic syndrome and associated with an increasing incidence of coronary heart disease.Objective and hypotheses: The aim of this study was to investigate the co...

Background: BMI has a negative impact on spontaneous and stimulated GH secretion in children, but the impact of BMI and free fatty acids (FFA) on peak stimulated GH values in Han children with short stature is unknown.Objective and hypotheses: To assess the effects of BMI and FFA on peak GH values in Han children with short stature.Method: This was a retrospective, cross-sectional study. We used arginine–clonidine test to anal...

Introduction: Congenital hypothyroidism (CH) is caused by underdeveloped thyroid gland or defect of thyroid hormone synthesis. The prevalence of CH in Korea is 1 per 4,225 people, and DUOX2 mutations were previously known as the most prevalent mutation in Korean patients with CH. This study was performed to identify the correlation between etiology and genetic mutations in patients with CH in a single tertiary hospital.Methods:</...

Background and Aims: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. It is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme involved in the metabolism of fatty acids. As a result of the enzyme deficiency, individuals with CMAMMA experience an accumulation of malonic and methylmalonic acids in their blood and urine...

Central precocious puberty is more common in girls than boys and over 90% of girls central precocious puberty is idiopathic Pathological causes of central precocious puberty in very young girls include tumors, hydrocephalus, CNS infections, or post-traumatic events Astrocytoma is one of the very rare causes. Pilocytic astrocytomas are usually benign and may be diagnosed before the onset of precocious puberty due to neurological symptoms or be diagnosed for the first time in ch...

Background: With the use of insulin resistance (IR) as a cause of metabolic syndrome (MetS), it is possible to screen the risk group of childhood MetS. Indirect index of IR can be estimated thru homeostasis model assessment (HOMA) of IR. Another index of triglyceride and glucose (TyG) were evaluated and equally effective in some adult studies. However, we do not have consistent prevalence rate and percentile distribution of MOMA-IR and TyG index in children and adolescent popu...

Purpose: Aetiologies of congenital hypothyroidism (CH) in newborn period are various, and TSH receptor (TSHR) mutation is known as one of them. We evaluated mutational analysis of the gene TSHR and clinical characteristics in the patients with CH or neonatal hyperthyrotropinemia.Method: Mutation analysis was done in 96 children with CH or transient hyperthyrotropinemia who has been managed at the Department of Pediatrics in Dankook University Hospital. C...

Objective: To investigate response to growth hormone (GH) treatment for idiopathic GH deficient (GHD) and family short stature (FSS) and Small for Gestational Age (SGA) patients or Combined group.Design: GHD, FSS, SGA and Combined group patients who were currently receiving GH and had completed treatment with treatment duration of more than 6 months (from 8/2019 to 5/2021) at International Vinmec Central Park hospital. M...

Background: Precocious puberty is defined by the development of secondary sexual characteristics before the age of 8 in girls and before the age of 9 in boys. if not diagnosed and treated at an early stage, precocious puberty can compromise final adult height and trigger psychological disturbances. Gonadotropin- releasing hormone analogs (GnRHa) contributes to achievement of target final height by reducing the acceleration of bone maturation.<p class="abst...