hrp0089p3-p236 | Growth & Syndromes P3 | ESPE2018

A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family

Yang Yu , Huang Hui , Zhou Bin

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

hrp0089p3-p380 | Thyroid P3 | ESPE2018

A Case of Permanent Congenital Hypothyroidism with Compound Heterozygous Mutations in the DUOX2 Gene

Hwang Jeongju , Jang Ja-Hyun , Yu Jeesuk

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...

hrp0086p2-p309 | Diabetes P2 | ESPE2016

Clinical Characteristics of Latent Autoimmune Diabetes in Youth (Type 1.5 DM)

Lee Seung Ho , Huh Seung , Yu Jeesuk

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...

hrp0084p2-572 | Thyroid | ESPE2015

Mutational Analysis of TSH Receptor and the Clinical Characteristics of Congenital Hypothyroidism

Yu Jeesuk , Lee Seung Ho , Han Kyudong

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...

hrp0084p3-849 | Fat | ESPE2015

The Triglyceride-to-High Density Lipoprotein Cholesterol Ratio in Overweight Korean Children

Kang Yu Sun , Yoo Eun-Gyong

Background: Dyslipidaemia is related with the initiation and progression of atherosclerosis in children, and the total cholesterol (TC) and non-high density lipoprotein cholesterol (non-HDL-C) are commonly used screening tools for identifying children with dyslipidaemia. The triglyceride-to-high density lipoprotein cholesterol (TG/HDL-C) ratio has recently been reported as a marker of insulin resistance in obese children and adolescents.Objective and hyp...

hrp0094p2-447 | Thyroid | ESPE2021

Incidentally detected papillary thyroid cancer with elevated calcitonin in a 15 year-old female: A case report

Yang Jaejin , Lee Wonae , Yu Jeesuk

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...

hrp0094p2-472 | Thyroid | ESPE2021

Thyroid dysfunction and autoimmune thyroiditis in children with new-onset diabetes mellitus

Kim Goo Lyeon , Chun Sangwoo , Yu Jeesuk

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 ...

hrp0097p1-317 | Growth and Syndromes | ESPE2023

Growth hormone treatment in a case of Melnick-Needles Syndrome

Kim Yoonsoo , Rye Kim Jeong , Yu Jeesuk

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...

hrp0098p1-279 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Value of serum AMH and INHB in the diagnosis and treatment of central precocious puberty and early and fast puberty girls

Yang Yu , Zhang Haimeng , Huang Hui

Objective: To investigate the role of serum anti-mullerian hormone (AMH) and inhibin-B (INHB) in central precocious puberty precocious puberty (CPP) and early and fast puberty (EFP).Methods: A total of 423 girls with CPP, EFP, premature thelarche (PT) and undeveloped healthy who were treated in our Hospital from October 2020 to December 2022 were collected. General data, sex hormones, AMH, INHB levels and gonad ultrasoun...

hrp0092p1-200 | Fat, Metabolism and Obesity (1) | ESPE2019

Ferritin, an Indicator for Inflammation or Iron Storage in Obese Children?

Wu Wei , Yuan Jinna , Yu Yunxian , Shen Yu , Dong Guanping , Huang Ke , Zhang Li , Fu Junfen

Ferritin is a widely used iron storage indicator. At the same time, it is also viewed as an indicator of inflammation. Chronic low-grade inflammation in obese individual, especially in the one with metabolic disorders, related to comorbidities and poor prognosis. Both hyperglycemia and iron overload can induce inflammation and result in vascular endothelial dysfunction. To study the role of ferritin in obese children and its impact on artery and liver, the present study invest...