ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

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 ...

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...

Purpose: As the survival rate for pediatric cancers increases significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae of childhood cancer survivors after hematopoietic stem cell transplantation (HSCT).Methods: This study included 200 pediatric patients who underwent HSCT. Clinical and endocrinological f...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...

Adolescent idiopathic scoliosis (AIS) is the most common form of scoliosis, affecting approximately 2 to 4 percent of adolescents. AIS by definition occurs in children between 10 to 18 years old, in periods of growth spurts and puberty changes. In patients with central precocious puberty (CPP), generally, growth spurts start earlier than their peers. Therefore, AIS in patients with CPP is expected to develop earlier in juvenile age. Especially in girls, both AIS and CPP are mo...

Background: Triptorelin depot is largely used to treat central precocious puberty (CPP) in children and currently 3 monthly depot was introduced. No Korean data are available on 3-monthly GnRH agonist treatment in central precocious puberty.Aim: To compare the efficacy of Triptorelin 11.25mg 3-months depot with 3.75mg monthly depot in suppressing pubertal development from the beginning to 6 month and 1 year after the tre...

Objectives: In our previous study, serum thyroid stimulating hormone (TSH) level in the central precocious puberty (CPP) group was higher than that of the non-CPP group. Serum free thyroxine (fT4) level in the CPP group was notably lower than that of the non-CPP group. And it was also showed that age and peak luteinizing hormone (LH) were independent predictors of serum TSH concentration. Elevated TSH in girls with CPP is supposed to be associated with puberta...

Introduction: The incidence of idiopathic nephrotic syndrome (NS) is 1.5~16.9 per 100,000 children. The cause remains unknown but the pathogenesis of idiopathic NS is thought to involve immune dysregulation, systemic circulating factors, or inherited structural abnormalities of the podocyte. NS is characterized by the triad of proteinuria, hypoalbuminemia, and edema. There can be an antecedent infection, typically of the upper respiratory tract. Moreover,...