ESPE Abstracts

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

Aims: Complex glycerol kinase deficiency is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, adrenal hypoplasia congenita, Duchenne muscular dystrophy and intellectual disability. There are no definite dysmorphic features for this syndrome. The diagnosis is based on clinical and laboratory findings. Usually the first and most severe are the signs of adrenal hypoplasia, which, if not cured, may lead to death in a short tim...

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

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...

We assessed the risk of metabolic syndrome in children and adolescents who were classified using the tri-ponderal mass index (TMI) with data from the Korea National Health and Nutrition Examination Survey (KNHANES). Data from 10-18-year-old subjects that were overweight or obese (n=1,362) were extracted from the KNHANES 2007-2018. Weight classifications were determined by TMI and included overweight and Class I, Class II, and Class III obesity. The standard deviation ...

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

We investigated the reference values of liver enzymes based on cardiometabolic risks among children and adolescents using the Korea National Health and Nutrition Examination Survey (KNHANES). A total of 8,091 subjects aged 10-18 years were included data from 2007-2017. Overall, Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and the AST/ALT ratio varied with sex and age. AST levels tended to decrease with age, but ALT levels had a U-shaped curve, which result...

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...