ESPE Abstracts

Objective: To explore the clinical features and the genetic cause of a multiple malformation patient with short stature.Methods: The clinical data was collected in Beijing Children’s Hospital in November 2017. The disease-causing variant was identified using exome sequencing and confirmed with Sanger sequencing. Related literature was searched from Wanfang and Pubmed databases using the key word of ‘PORCN gene’ to identify the clinical fea...

Backgrounds: The treatment of diazoxide-unresponsive congenital hyperinsulinism (CHI) is a big challenge in clinical practice. Octreotide is an off-lable medicine for CHI but widely used nowadays. However, the efficacy and adverse effects have been reported varied in centers.Objective: To evaluate the efficacy and safety of the subcutaneous octreotide injection for diazoxide-unresponsive CHI in China.Subjects and methods: Diazoxide...

Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.Results: Among...

Introduction: Post-marketing surveillance registries provided extensive information about the safety and efficacy of daily growth hormone (GH) therapy during treatment. With the availability of novel long-acting GH (LAGH) therapies, it is important to determine whether the novel molecules or the different pattern of GH exposure lead to changes in the efficacy and safety profile. Therefore, new surveillance registries of LAGH are warranted.<p class="abstext...

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 ...

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

Central precocious puberty (CPP) is one of the most common pediatric endocrine diseases with an ever increasing incidence. CPP is associated with the loss of final adult height, early menarche, psychological problems and an increased risk of developing diseases in later adulthood such as female reproductive system tumors. The gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard for the diagnosis of CPP. However, the test is costly and time consuming to...

Background: The gold standard for CPP diagnosis is gonadotropin releasing hormone stimulation test (GnRHST). However, this test is expensive, invasive and inconvenient for screening. Some recent studies have demonstrated that the FMV urinary luteinizing hormone (U-LH) has a strong correlation with LH peak value and serum basal LH, and a high consistency with Tanner staging results, but due to the lack of large-sample, multicenter clinical research data, a form...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

Objective: Evaluation the clinical efficacy of autologous hematopoietie stem cell transplantation and traditional insulin therapy.Methods: This is a case–control study. The subject investigated were diagnosed primary childhood type 1 diabetes in Beijing Children’s Hospital Endocrinology Centre, and there are 14 cases did the immune intervention combined with autologous hematopoietie stem cell transplantation in other hospital during the first 3...