ESPE Abstracts

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

Background: We investigate the efficacy and safety of two different treatments which have not been evaluated in peri-puberty boys with HH.Objective and hypotheses: To assess the effectiveness and safety of pulsatile GnRH or hCG treatment in adolescent boys with hypogonadotropic hypogonadodism.Method: 12 patients received 8–10 μg of GnRH, subcutaneously injected every 90 min using a pump. Another 22 patients received hCG, ...

Background: Nearly half of SRS epigenetic etiology is unknown. Effect of GH in SRS is not exact.Objective: To determine novel gene or imprinted gene associated with pathogenicity of Silver–Russell syndrome (SRS) through detection genome-wide methylation differences. To observe GH efficacy in SRS and the relationship between GH and epigenetic changes.Method: To detect genome-wide methylation site through the Illumina 450K methy...

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 ...

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: 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 ...

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...