ESPE Abstracts

Background: Single gene variants that give rise to neonatal diabetes mellitus (NDM), maturity onset diabetes of the young (MODY) and syndromic forms of diabetes mellitus (SDM) are responsible for 3.1-4.2% of all diabetes cases. Next generation sequencing techniques (NGS) are the game changer in terms of accurate diagnosis of monogenic diabetes (MD) which in turn allows the most appropriate treatment and the more precise prognostics. This single-center study wi...

Background and objectives: Dyslipidemia especially hypercholesterolemia attracts much more attention recently. Given different management and treatment of multiple categories, precise diagnosis becomes increasingly important. However, studies in pediatric patients lacks around the world, especially in China. Consequently, this study was designed to confirm the molecular defect of persistent hypercholesterolemia with next-generation sequencing basing on a singl...

Object: To assess the efficacy and impact factors of treatment with GnRHa alone or in combination with rhGH in idiopathic central precocious puberty (CPP) or early and fast puberty (EFP) in Chinese girls.Methods: We conducted a retrospective analysis on 20 years of data obtained from 11 medical centers from January 1998 to March 2017, and 393 girls with CPP (n=302) or EFP (n=91), who untreated or received GnRHa alone or in Combination w...

Objective: In boys during puberty who were undergoing recombinant human growth hormone (rhGH) treatment, we compared the therapeutic efficacy and any adverse reactions, of co-therapy with letrozole/gonadotropin releasing hormone analog (GnRHa).Methods: Fifty-six pubertal growth hormone deficiency (GHD) boys were studied, they were treated with the combination of letrozole and rhGH (letrozole group) or GnRHa and rhGH (GnR...

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...

Objective: Type E brachydactyly (BDE) is characterized by shortening of the metacarpal/metatarsal bones, with the phalanges also potentially affected. This study analyzes the clinical features and genotype-phenotype correlations of BDE in children.Methods: This study selected 135 patients with BDE who visited the Children's Hospital affiliated with Soochow University from June 2021 to December 2023 and completed a b...

Objective: Hypophosphatasia (HPP) is a monogenic metabolic bone disease characterized by skeletal and dental mineralization disorders and paradoxically low serum alkaline phosphatase (ALP) activity. The pathogenic gene for HPP is ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). The purpose of this study is to determine the prevalence of HPP among the population in Suzhou and explore the genotypic spectrum of ALPL gene in ...

Objective: To describe the clinical characteristics of a child with 21-hydroxylase deficiency (21OHD) combined with familial hypercholesterolemia (FH), who also developed Kawasaki disease (KD), and to follow up over a long period.Methods: Clinical data of a boy with 21OHD combined with FH were collected. Treatments with hydrocortisone, fludrocortisone, atorvastatin, and ezetimibe were administered, with monitoring of the...

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...

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...