ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is caused by the deletion of the paternally-derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). Puberty is usually delayed and central precocious puberty (CPP) is very rare in PWS.Objective and hypotheses: This study was undertaken to correlate clinical features focusing on pubertal progression with genotype with or without MKRN3 deletion to understand the mechanism of C...

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

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...

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 ...

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: Hematopoietic stem cell transplantation (HSCT) has improved the prognosis of children with malignant hematologic disease. However, it has had significant adverse effects on the endocrine system, including bone health. Limited studies are available to assess osteoporosis in survivors of adolescents after HSCT.Objective and hypotheses: We investigate the bone mineral density (BMD) and endocrinopathy/treatment factors associated with low BMD in ...