ESPE Abstracts

Background: Primary congenital hypothyroidism can be classified into thyroid dysgenesis and thyroid dyshormonogenesis. Thyroid dysgenesis includes aplasia, hypoplasia, and ectopia. About one-third of ectopic thyroid is presented with congenital hypothyroidism, but sometimes it may be difficult to diagnose ectopic thyroid in infancy. Thyroid ultrasonography or scintigraphy can be used to diagnose thyroid dysgenesis, but sometimes it is hard to diagnose correctly by using one of...

Purpose: Congenital hypothyroidism (CH) is a state in which thyroid hormones are insufficient at birth. This condition may last for a lifetime or may be transient. Due to the universal newborn screening test, almost all newborns are being screened for thyroid function in Korea. The study was aimed to see the predictors of transient congenital hypothyroidism with long-term follow-up of more than 3 years of CH in a single tertiary center.<...

Introduction: Congenital hypothyroidism is defined as thyroid hormone deficiency present at birth. It is the most common congenital endocrine disorder. Neonatal screening test for hypothyroidism can allow its early detection. The course of disease can be permanent or transient. Some permanent congenital hypothyroidism has been linked to defects in proteins involved in the synthesis of thyroid hormones. One of the critical steps in the synthesis of thyroid hormone is the genera...

Background: Diabetes mellitus (DM) in childhood was mostly type 1 DM (T1DM), but sometimes it is not easy to classify, especially in the case having both type 2 clinical phenotype and autoantibody positivity. It is named as latent autoimmune diabetes in youth or type 1.5 DM (T1.5DM).Objective and hypotheses: This study was designed to evaluate the clinical characteristics of T1.5DM who had autoantibody positivity with clinical phenotype of T2DM.<p cl...

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...

Thyroid cancer in children is not common but there is a tendency to increase requiring early suspicion and close monitoring of thyroid nodule. Papillary thyroid cancer (PTC) is the most common type of thyroid cancer and medullary thyroid cancer (MTC) is rare, MTC can be suspected if there is elevated calcitonin level. A 15-year-6-month-old girl was admitted for generalized tonic seizure with fever. Initial Brain MRI showed a small oval diffusion restriction lesion in the midli...

Introduction: Type 1 diabetes mellitus (DM) can be related with other autoimmune disorders. Thyroid dysfunction and autoimmune thyroiditis are frequently reported in DM. This study was performed to evaluate the prevalence and risk factors of thyroid dysfunction and autoimmune thyroiditis in children with new-onset DM.Subjects and Methods: Children with DM and followed for more than 6 months in a single tertiary center were included in the study. Medical ...

Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the d...

Introduction: In previous times, diabetes mellitus in children and adolescents was usually type 1 diabetes which was caused by autoimmune beta cell destruction, but due to the increased prevalence of obesity, the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. It is worthwhile to find new causes of monoge...

Introduction: Recently the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. Therefore, it is useful to conduct genetic study in children with type 2 feature to understand underlying cause of glycemic dysregulation as well as for the management of diabetes mellitus.Case</stron...