ESPE Abstracts

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

Objective: Report 5 new variants of 7 KMT2D/KDM6A and summarize the clinical manifestations and the mutational spectrum of Kabuki syndrome (KS) by analyzing the reported Chinese cases.Methods: Blood samples were collected for whole-exome sequencing (WES) for 7 patients and their parents if available. Phenotypic and genotypic spectra of 39 previously published unrelated Chinese KS patients were summarized.<p ...

Background: Type 2 diabetes in children and adolescents is a rare disease with an estimated incidence (age 0–20 years) of below 5/100 000 in Germany.Objective and Hypotheses: We hypothesize that monogenic alterations might contribute to early-onset insulin secretion defects, if islet function was challenged by obesity-associated insulin resistance.Method: We follow more than 1500 children and adolescents with obesity. Patients...

Background: Secondary diabetes in children, often rising from the treatment of the primary disease. However, not enough attention has been paid. We analyze the cases of secondary diabetes in children identified from 2002 to 2010 in our hospital for the frequency and clinical features, so as to gain a better understanding of the disease.Objective and hypotheses: To investigate the prevalence and association factors of secondary diabetes in Chinese hospita...

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...

Background: The acid-labile subunit (ALS) is the crucial third player in the tertiary complex for its function of prolonging the half-life of the IGF1-IGFBP3 binary complexes. IGF1 and IGFBP3 are routinely determined during the diagnostic work-up for growth hormone deficiency (GHD). The aim of the study is to evaluate the relevance of serum ALS as an additional biomarker, alone or in combination with IGF1 and IGFBP3, in the diagnosis of GHD.<p class="abste...

Aims: To evaluate the performance of a factory-calibrated flash glucose monitoring system in children with diabetes compared to venous blood glucose (BG).Methods: A total of 13 hospitalized participants newly diagnosed with type 1 diabetes, aged 1~14 years old, were involved in the study. Sensor glucose measurements on days 2, 3, 6, 7, 12 and 13 of wear were compared with venous BG. During these days, the venous BG ...

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...