ESPE Abstracts

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

Objective: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) children with Rathke cyst.Methods: The clinical data of 12 GHD children aged from 5–12 years old, whose radiologic diagnosis showed Rathke cyst during Jan 2010–Dec 2012 in our hospital, were analyzed retrospectively. rhGH was given subcutaneously to each enrolled child with a night dose of 0.1 IU/kg six to seven times a week for 12–30 months. T...

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

Objective: To screen and identify serum differentially expressed proteins in girls with rapidly progressing central precocious puberty and healthy girls by proteomics. Methods: 15 idiopathic central precocious puberty girls and 15 healthy children were admitted to the Children’s Hospital of Suzhou University from August 2017 to October 2018.After mixing in the group, the high-abundance protein was removed and quantified ...

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...

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...

Background: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in ...