ESPE Abstracts

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

Background: In adolescents, as much as 51% of peak bone mass is accumulating and reaching 40% of bone mineral density (BMD) of adults. There are inconsistent reports on the associations between birth weight (BW) and bone mineral contents (BMC) in adolescents.Objective and hypotheses: We try to investigate the association between BW and BMC in adolescents.Method: Dual-energy x-ray aborptiometry assessment (DXA) of 10–18 adolesc...

Objective: The role of incretins in type 2 diabetes (T2D) is controversial. This study investigated the association between incretin levels in obese Korean children and adolescents with T2D.Patients and methods: We performed a 2-h oral glucose tolerance test in obese children and adolescents with T2D and with normal glucose tolerance. Twelve obese children and adolescents with newly diagnosed T2D (DM group) and 12 obese age-matched subjects without T2D (...

Background: Long-term survivors of childhood acute leukaemia can suffer from growth impairment. The purpose of this study was to evaluate longitudinal growth and final height of paediatric patients who were treated with acute leukaemia and factors that can cause growth impairment.Methods: Of 234 patients (133 males and 101 females) who were diagnosed as acute lymphoblastic leukaemia (ALL; n=162) or acute myeloblastic leukaemia (AML; n=7...

The aim of this study was to investigate that exposure metabolites of phthalate one of the endocrine disruptors might be different in sex and might have influenced from obesity and insulin resistance in Korean children and adolescents. Nationwide data of 551 subjects aged 8-15 years (boys 281 and girls 270) who were included the study from 2010-2011. Subjects were grouped by sex and BMI percentile (normal: BMI<85p; overweight: 85P≤BMI<95p; obese: ≥95p). We...

Backgrounds: Sitosterolemia is an inborn error of sterol metabolism caused by pathogenic variation of ABCG5 or ABCG8. It is characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis; however, it is likely to be underdiagnosed in the clinical field. This study aims to describe the genetic variance of clinically confirmed patients with sitosterolemia and analyze the clinical spectrum according to genetic variance.<p class="ab...

Objective: This study aimed to compare clinical parameters, including final adult height (FAH), in girls with central precocious puberty treated with gonadotropin-releasing hormone agonists (GnRHa) with and without growth hormone (GH).Methods: This retrospective study reviewed data of 210 girls with precocious puberty who had reached FAH in a long-term trial of GnRHa treatment. The subjects were divided into the GnRHa tr...

Objective: Central precocious puberty (CPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis. The gonadotropin releasing hormone (GnRH) stimulation test has become widely used in the evaluation of CPP. However, intravenous GnRH is often not readily available for commercial use. Therefore, we aimed to evaluate the diagnostic accuracy of the Triptorelin test compared to the GnRH test.Methods: A tot...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

Purpose: To examine the association of Insulin-like growth factor-1 (IGF-1) and binding protein-3 (IGFBP-3) with metabolic parameters of childhood obesity and assess its relationship with the presence of metabolic syndrome (MetS)Methods: A cross-sectional study of total 307 children and adolescents referred for growth assessment was performed. Subjects were divided into three groups based on body mass index (BMI) percent...