ESPE Abstracts

Objective: The purpose of this article is to retrospectively summarize the disease types and prognosis analysis of children's nonthyroid illness syndrome (NTIS), improve the diagnostic awareness of children's NTIS, and explore whether thyroxine replacement therapy is required or whether the body has a self-healing trend.Methods: The clinical data of 47 cases (32 males and 15 females) of NTIS diagnosed in variou...

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

Purpose: The causes of obesity is so much that the pandemic spread the global. The inherited factors have a profound effect on body fat mass, as well as the environmental factors. Out of these, the foremost is genetic factors that tend to early childhood obesity. The consensus recommended that genetic testing is necessary for serious early onset obesity to identify the pathogenic genes of inherited obesity. In order to improve the positive rate of genetic test...

Background: CPP is commonly treated with triptorelin, a gonadotropin-releasing hormone (GnRH) analogue. It is available as 1-month and 3-month prolonged-release (PR) formulations, but only the former is approved for CPP in China. Overseas studies have proved the efficacy and safety of triptorelin 3-month PR formulation; this study evaluated efficacy and safety in Chinese children with CPP.Methods: In this 12-month, open-...

Somapacitan is currently the only long-acting GH approved by FDA, PDMA and EMA to treat GH deficiency (GHD) in both children and adults. Similar efficacy, safety, and tolerability in children with GHD was demonstrated for somapacitan (0.16 mg/kg/week) compared to daily GH (0.034 mg/kg/day) in the global phase 3 REAL4 study, which was conducted in 20 countries within Asia (excluding China), Europe, and North America. Efficacy and safety of somapacitan in Chinese children with G...

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...

Background: Clinical use of serum gonadotropins (Gn) test for diagnosis of pubertal disorders is always limited by invasive sampling, requirement of hospital visit, high expense and the feature of pulsatile secretion of Gn. As an alternative, evaluating first morning voided (FMV) urinary Gn (U-Gn) may facilitate non-invasive pubertal assessment.Objective: In this study, we will explore whether FMV U-Gn can predict the ac...

Objectives: The gonadotropin-releasing hormone (GnRH) analogue triptorelin is used to treat central precocious puberty (CPP) in 1-, 3- and 6-month prolonged-release (PR) formulations. Currently, only the 1- and 3-month formulations are approved for CPP in China. However, the 6-month formulation is available for CPP treatment in numerous countries; this study assessed the efficacy and safety of this formulation in Chinese children with CPP.<p class="abstext...