ESPE Abstracts

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...

Objective: To explore the diagnostic value of morning urinary gonadotropins for assessing central precocious puberty (CPP) in girls with varying BMI and the potential use of first morning voided urinary luteinizing hormone (FMV ULH) in monitoring CPP treatment.Methods: A total of 335 precocious puberty girls were selected. Data of serum luteinizing hormone (LH), follicle stimulating hormone (FSH), gonadotropin-releasing ...

Background: Steroidogenic factor-1 (SF1) is a nuclear receptor transcription factor that plays a crucial role in regulating the adrenal, gonadal, splenic development, steroidogenesis and reproduction.Objective: To describe a Chinese 46,XY female with sex reversal, primary adrenal insufficiency and congenital splenic dysplasia harboring a novel de novo heterozygous deletion in NR5A1 gene.<p class="ab...

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...

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...

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...

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Quantitative analysis of endogenous and exogenous steroid hormones is an important step for our understanding of the causes of endocrine disorders in pediatric. In this study, we developed a method to simultaneously quantify endogenous and exogenous steroids in pediatric urine and plasma. Ultra-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to simultaneously quantify steroid hormones in children plasma and urine. Under the optimum conditions, th...