ESPE Abstracts

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

Background: Childhood obesity is a major health concern. Exposure to environmental chemicals may play a role in childhood obesity.Objective and hypotheses: We investigated whether urinary phthalate metabolite concentrations was associated with overweight or obese status in 4-year-old children.Method: Forty-hundred thirteen children born as term, appropriate-for-gestational-age infants (226 males) were included in this study. BMI wa...

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine associated with obesity, insulin resistance, hypertension, and atherosclerosis in adulthood. Few studies have been conducted in healthy young children. We aimed to investigate whether IL-6 levels are associated with cardiometabolic risk factors in healthy 4-year-old children.Methods: From a prospective cohort study named Environment and Development of Children (EDC) cohort, a total of 421 sin...

Objective: To investigate whether the early-life overweight/obesity trajectory from ages 2, 4, to 8 affects insulin resistance (IR) in 8-year-old prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort, 262 prepubertal children (147 boys and 115 girls) who visited Seoul National University Children’s Hospital for anthropometric measurements at ages 2, 4 and 8 were included. At ag...

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...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Objective: We evaluated frequency and risk factors of delayed TSH elevation (dTSH) and investigated follow-up outcomes in the dTSH group with venous TSH (v-TSH) levels of 6–20 mU/L according to whether late preterm infants born at gestational age (GA) 35–36 weeks had risk factors.Methods: The medical records of 810 neonates (414 boys) born at Seoul National University Hospital who had a normal neonatal screenin...

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

Background: Increased arterial stiffness may precede cardiovascular complications in patients with type 1 diabetes (T1DM). As the autonomic nervous system is responsible for regulating heart rate and vascular tone, autonomic dysfunction may contribute to increased arterial stiffness in patients with T1DM.Objective and hypotheses: We investigated whether decreased heart rate variability (HRV) was associated arterial stiffness index (ASI) in patients with ...