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...

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...

Objective: To explore the correlation of sex hormone-binding globulin (SHBG) and Total Testosterone (TT) with the development of Metabolic syndrome (MetS) in obese boys. To explore the relationship between components of MetS and TT levels in boys.Methods: A total of 439 boys aged 6-18 years old from April 2020 to February 2023, include boys who visited the Department of Endocrinology, Genetics and Metabolism in Jiangxi P...

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:90 girls with CPP, EFP and premature thelarche (PT) were enrolled in our hospital from January 2021 to December 2022, and 45 girls without healthy development were enrolled. General data, sex hormones, AMH, INHB levels and gonad ultras...

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.<...

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...

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...

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...