ESPE Abstracts

Background/purpose: Graves’ disease (GD) is an autoimmune disorder characterized by hyperthyroidism, diffuse goiter, and/or ophthalmopathy that is caused by the activation of the thyroid-stimulating hormone (TSH) receptor by thyrotropin receptor antibodies (TRAb). GD is the most common cause of thyrotoxicosis in children and adolescents, accounting for 10-15% of all thyroid illness in children and adolescents. The treatment of GD in children and adolesce...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia with abnormal growth pattern and inadequate pubertal growth spurt. Achondroplasia and HCH have many similar phenotype, however, HCH show the mildest phenotype among FGFR3-associated skeletal dysplasia, and the radiologic findings are usually so subtle. We investigated to evaluate clue for the hypochondroplasia, and clinical and genetic characteristics of eleven Korean patients with HCH. We a...

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

Prolactinoma is most common functioning pituitary adenoma(50%). However, there have been limited studies for prolactinoma in adolescents. Pituitary adenomas are uncommon in childhood and adolescence (<3% of childhood supratentorial tumors, 3–6% of all surgically treated adenomas). The aim of this study is to assess the characteristics of Korean adolescents with prolactinoma and their clinical course. This study is retrospective cohort study. Patients diagnosed with pr...

Background: Excess adiposity may influence various aspects of pubertal development, including the timing of pubertal initiation and hormonal parameters during puberty.Objective and hypotheses: The aim of this study was to clarify the impact of BMI on LH secretion in response to GnRH stimulation test in girls diagnosed with central precocious puberty.Method: Girls with central precocious puberty, who underwent GnRH-stimulation test ...

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

Background: The achievement and maintenance of normoglycemia is one of the most important goals to prevent both short and long-term complications in type 1 diabetes mellitus (T1DM). As carbohydrate acts as the primary macronutrient affecting postprandial glycemic response, carbohydrate counting is crucial in adjusting prandial insulin doses to preserve postprandial blood glucose within normal limits. The purpose of this study is to examine the effect for carbo...