ESPE Abstracts

Background: Noonan syndrome (NS) is generally considered an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. The latest research confirmed the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. In this study, we diagnosed 55 Chinese NS Children via targeted sequencing or whole exome sequencing (TS/WES).<p ...

Purpose: Growth hormone (GH) treatment has become common practice in Turner syndrome (TS) to improve final adult height. However, there are only a few studies on the analysis of good responders to GH treatment in TS. The aim of this study is to predict the responsiveness to growth hormone therapy in Turner syndrome.Methods: Among 197 TS patients registered in LG Growth study, 92 patients were excluded because of systemic illness or hypothyroidism. The cl...

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...

Objective: The onset of obesity complicated with metabolic syndrome in children and adolescents is hidden, the mechanism is unknown, and early warning indicators are lacking clinically. This study conducted multi-omics research on children and adolescents with simple obesity and obesity complicated with metabolic syndrome to provide early clinical diagnosis and drug treatment targets for its occurrence and development mechanism.M...

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

Keywords: Prader-Willi syndrome; Gut microbiota; Insulin sensitivity; Metagenomics sequencing; Obesity.Aim: Obesity is the main driving factor for comorbidities in Prader-Willi syndrome (PWS) patients due to overeating behaviors. The gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. The purpose of the present study is to characterize the fecal microbiota in Chinese patients with...

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-...

Keywords: precocious puberty, COVID-19Background: Studies have reported an increase in precocious puberty (PP) cases during the COVID-19 pandemic, but there is inconsistency in the findings. Various influencing factors have been proposed to explain this surge. The present study aimed to investigate the PP trend following the pandemic, examine potential influencing factors, and investigate the dose-response relationship b...

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...