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: Low bone mass during growth may increase risk of fracture. Adequate reference data for bone mineral density (BMD) are needed to identify adolescents with bone deficit.Objective and hypotheses: We aimed to provide normative values and reference curves for BMD in Korean adolescents and young adults.Method: Using the data from Korean Nutrition Health and Nutrition Examination Survey (KNHANES) in 2008–2011, a total of ...

Background: Metabolic syndrome and impaired bone health are common complications in childhood cancer survivors, and both are possibly related with decreased physical activities.Objective and hypotheses: We aimed to evaluate the prevalence rates of metabolic syndrome and osteopenia in adolescent/young adult childhood cancer survivors. We also aimed to investigate the relationship between physical activity and these complications.Met...

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...

Background: Experimental models suggest that exposure to low dose nonylphenol could induce adiposity and promote adipocyte differentiation in mice. However, studies on the effect of nonylphenol exposure to human obesity have not been adequately studied.Objective: We investigated the associations of serum nonylphenol concentration with adiposity measures in Korean children and adolescents.Me...

Background: Acquired QT prolongation can be caused by electrolyte abnormality, myocarditis, cerebrovascular disease, drug intoxication and hormonal disorders such as hypopituitarism, hypothyroidism, and adrenal insufficiency.Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram. This subject complained of blurre...

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

Objectives: Diabetes in children and young adults is increasing worldwide. However, the study of change in fasting glucose among general pediatric and young adult population was lacking. The aim of this study was to investigate the secular trend of fasting plasma glucose (FPG) levels in non-diabetic Korean youth and young adults and to evaluate the change in the proportion of impaired fasting glucose (IFG).Methods: Study subjects were Korean youth aged 1...