ESPE Abstracts

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

Objectives: To describe safety and effectiveness of high (≥90-180 µg/kg) and low (<90-30 µg/kg) dose leuprorelin in treating central precocious puberty (CPP).Methods: In this observational, retrospective study, effectiveness was evaluated based on regression or no progression of Tanner staging as the primary outcomes. LH, FSH, estradiol or testosterone suppression, and decrease in bone age to chronolo...

The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early diagnosis of PWS is essential for timely treatment, leading to effectively easing some clinical symptoms. Molecular approaches for PWS diagnosis at the DNA level are available, but the diagnosis of PWS at the RNA level has been limited. Here, we show that a cluster of paternally transcribed snoRNA-ended long noncod...

This study was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic c...

Background: Turner syndrome (TS) is a chromosomal disorder characterized by ovarian dysgenesis, short stature, and other congenital abnormalities. This condition arises from a complete or partial loss of one X chromosome in females, often leading to delayed diagnosis and thus missing critical opportunities for timely treatment. Estrogen Replacement Therapy (ERT) and Growth Hormone Replacement Therapy (GHRT) are standard treatments, yet their long-term impacts ...

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

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...

Purpose: Our previous study showed no correlation between -202 A/C IGFBP-3 promoter polymorphism and Δheight SDS in children with growth hormone deficiency. We investigated the influences of the -202 IGFBP-3 polymorphism on 1-year follow-up outcomes of GH treatment in Korean children with ISS.Methods: Data was obtained from 81 children with idiopathic short stature (peak serum growth hormone (GH) ≥ 7.0 ng/mL b...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...