Publications by authors named "Chunxiu Gong"

Article Synopsis
  • Pegpesen® is a new once-weekly treatment for growth hormone deficiency (GHD) in children, designed to offer an alternative to daily human growth hormone therapy.
  • A phase 3 clinical trial involving 391 children showed that Pegpesen® had a growth velocity similar to daily rhGH, indicating it is non-inferior.
  • The safety and adherence profiles for Pegpesen® were comparable to daily rhGH, suggesting it could be a beneficial option due to lower dosage requirements.
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  • The study compares clinical and genetic features of two Chinese children with type I sialidosis to previously reported cases, aiming to gather more insights into the disorder.
  • The first patient, an 11-year-old girl, presented with short stature and vision problems linked to genetic mutations in the NEU1 gene, while the second patient, a 10-year-old boy, showed rapid weight gain and distinct visual impairments.
  • Upon analyzing a total of 71 cases from the literature, common symptoms identified include muscle spasms and ataxia, highlighting the diverse manifestations of this genetic condition.
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  • Octreotide serves as a second-line treatment for congenital hyperinsulinism (CHI) patients who do not respond to diazoxide or surgery, showing a 93% success rate in managing blood glucose levels.
  • A study analyzing 122 CHI patients indicated common side effects, including gastrointestinal issues and transient hyperglycemia, with a higher rate of adverse events linked to increased octreotide doses.
  • The findings suggest that using intermediate doses of octreotide may reduce the risk of adverse effects, highlighting the need for careful patient monitoring during treatment, particularly at higher dosage levels.
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Background: Antithyroid drugs (ATDs) are the preferred treatment option for Graves' disease (GD), yet there is a lack of systematic evaluations studying the relationship between treatment duration and therapeutic outcomes. This study aims to assess the remission rate (RR) in children with GD under ATDs therapy and to conduct an analysis of associated factors.

Method: Systematically searched PubMed, Embase, Cochrane Library, Web of Science, China National Knowledge Infrastructure and Wanfang database, with a search time limit from the establishment of the database to 23 November 2023.

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Article Synopsis
  • - This phase 3 study evaluated a 6-month prolonged release formulation of triptorelin for treating central precocious puberty (CPP) in Chinese children, focusing on its efficacy, safety, and pharmacokinetics.
  • - In an open-label trial involving 66 children (93.9% girls), the treatment successfully suppressed luteinizing hormone (LH) levels in all participants by month 6, with 98.5% maintaining this suppression at month 12, alongside other positive hormone and development outcomes.
  • - The study found that triptorelin had a safety profile similar to previous studies in non-Chinese children, with limited adverse events reported, reinforcing its effectiveness and safety in managing CPP.
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  • The study investigates the effects of long-term PEG-rhGH treatment on bone metabolism in prepubertal girls with Turner Syndrome (TS).
  • It involved 28 participants, with 18 receiving the treatment and measurements taken at the start and after 12 months to assess growth and bone health.
  • Results showed significant improvements in growth velocity, height, and bone formation markers in the treatment group, indicating that PEG-rhGH therapy positively impacts bone metabolism in these girls.
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  • ROHHAD is a rare syndrome that causes sudden obesity and various problems with body functions, but these problems can be easy to miss.
  • The study looked at 16 patients diagnosed with ROHHAD and found that many had multiple symptoms related to body regulation issues, like heart and digestive problems.
  • The results showed that these issues, as well as behavioral problems, were more common in patients diagnosed in certain hospitals, suggesting that better checks are needed to understand this syndrome fully.
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  • Central precocious puberty due to Leydig cell tumors is rare but was observed in a retrospective study of 12 children treated at Beijing Children's Hospital from 2016 to 2023.
  • The analysis included various clinical evaluations, and all patients showed abnormal hormone levels, with ten experiencing peripheral precocious puberty at admission.
  • The study found a high occurrence of central precocious puberty post-surgery, with effective treatment using gonadotropin-releasing hormone analogs, though more extensive research is recommended for future insights.
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  • - The study evaluated a commercial AI-powered X-ray bone age analyzer's effectiveness compared to the Tanner-Whitehouse 3 (TW-3) method, finding that the AI system is both accurate and efficient in assessing bone age in children and adolescents.
  • - It used radiographs from 900 patients across 30 centers in China, with six doctors independently assessing the images alongside the AI, which performed better on average than one of the raters and matched performance with others in terms of accuracy.
  • - The AI analyzer achieved an impressive mean absolute error (MAE) of around 0.48 years for bone age estimates, suggesting it could enhance clinical workflow by significantly reducing the time required for evaluations.
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The aim of the study was to investigate whether the administration of gonadotropins to mimic the physiological development of infants with congenital hypogonadotropic hypogonadism (CHH) after birth can facilitate testicular descent, penile growth, and ultimately preserve fertility. This study included eight infants with CHH who received a gonadotropin-releasing hormone (GnRH) pump or human chorionic gonadotropin (HCG) combined with human menopausal gonadotropin (HMG) therapy at Beijing Children's Hospital from August 2018 to March 2023. The age of the infants ranged from 6 months to 2 years.

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Context: Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46,XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes to the fertility of individuals.

Methods: This was a cohort study that analyzed the genetic and clinical characteristics of patients with AIS from a single center in China.

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Background: This study reported height prediction and longitudinal growth changes in Chinese pediatric patients with acute myeloid leukemia (AML) during and after treatment and their associations with outcomes.

Methods: Changes in 88 children with AML in percentages according to the growth percentile curve for Chinese boys/girls aged 2-18/0-2 years for body mass index (BMI), height, and weight from the time of diagnosis to 2 years off therapy were evaluated. The outcomes of AML were compared among patients with different BMI levels.

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Aims/introduction: The aim of the present study was to evaluate the status of glycemic control, and assess the effects of the disease course and comprehensive management measures on the blood glucose level in children and adolescents with type 2 diabetes mellitus.

Materials And Methods: The study collected the clinical data of type 2 diabetes patients in Beijing Children's Hospital from January 2015 to September 2020. Patients were grouped based on the disease course to compare their glycated hemoglobin (HbA1c) level, islet β-cell function, insulin resistance and comprehensive management measures.

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Objective: Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and molecular aspects of six new Chinese patients were investigated.

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Objective: To explore the gender-, age-, and weight status-specific prevalence of hyperuricemia (HUA) and its associated risk factors among Chinese children and adolescents with obesity.

Methods: A total of 1329 children aged 2-17 years, who were diagnosed with obesity and hospitalized in our center from January 2016 to December 2022 were recruited. They were divided into mild obesity, moderate obesity, and severe obesity groups.

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Objective: Children born small for gestational age (SGA) are at a greater risk of developing insulin resistance, type 2 diabetes, and cardiovascular disease in adulthood. Gastrointestinal peptides, some secreted by intestinal L cells, regulate glucose and lipid metabolism and act on the hypothalamus to regulate energy homeostasis. The aim of this study was to explore whether gastrointestinal peptides are involved in metabolic disorders in SGA, which remains unclear.

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Introduction: Although there are some recommendations in the literature on the assessments that should be performed in children on recombinant human growth hormone (rhGH) therapy, the level of consensus on these measurements is not clear. The objective of the current study was to identify the minimum dataset (MDS) that could be measured in a routine clinical setting across the world, aiming to minimise burden on clinicians and improve quality of data collection.

Methods: This study was undertaken by the growth hormone (GH) scientific study group in GloBE-Reg, a new project that has developed a common registry platform that can support long-term safety and effectiveness studies of drugs.

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Importance: Currently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting the widespread use of ES and CMA, a definitive diagnostic yield has not been established.

Objective: To investigate the diagnostic yield of ES and CMA in short stature.

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There is a lack of long-term data on the benefit of growth hormone (GH) treatment in Chinese children born small for gestational age (SGA). This study was conducted to assess the long-term efficacy and safety of GH treatment in children born SGA. One hundred and twenty prepubertal SGA children who did not achieve catch-up growth with height remained less than -2 standard deviations (SD) below gender-specific height were enrolled in this two-year, randomized, dose-comparative study followed by an extension study of up to 10 years.

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Article Synopsis
  • 5α-reductase 2 deficiency leads to issues with testosterone conversion, resulting in abnormal urogenital development and hypospadias in affected patients.
  • The study analyzed 69 patients who underwent hypospadias surgery, showing that preoperative hormone stimulation (PHS) significantly improved penile growth.
  • Results indicated differences between one-stage and staged surgeries in terms of recovery, with specific genetic mutations influencing surgical outcomes and future development considerations.
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Asthenozoospermia characterized by decreased sperm motility is a major cause of male infertility, but the majority of the etiology remains unknown. Here, we showed that the cilia and flagella associated protein 52 (Cfap52) gene was predominantly expressed in testis and its deletion in a Cfap52 knockout mouse model resulted in decreased sperm motility and male infertility. Cfap52 knockout also led to the disorganization of the midpiece-principal piece junction of the sperm tail but had no effect on the axoneme ultrastructure in spermatozoa.

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Introduction: China has a low incidence of type 1 diabetes mellitus (T1DM); however, based on the large population, the absolute numbers are high. Our aim was to assess the incidence of childhood T1DM in Beijing during 2011-2020, predicted incidence for 2025-2035, and to determine the incidence of diabetic ketosis or diabetic ketoacidosis (DK/DKA) in this population.

Methods: Data on patients aged less than 15 years of age with newly diagnosed T1DM between January 1, 2011 and December 31, 2020 was obtained from five tertiary hospitals in Beijing and retrospectively analyzed.

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