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    SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
  • ● SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
    Application and considerations of recombinant human growth hormone in treating growth disorders in children with chronic kidney disease
    ZHOU Jian-Hua
    2025, 27(2): 133-138. https://doi.org/10.7499/j.issn.1008-8830.2410023
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    Growth disorders are one of the common complications of chronic kidney disease (CKD) in children, adversely affecting both the quality of life and survival time of CKD patients. Recombinant human growth hormone (rhGH) is an effective treatment for growth disorders in children with CKD. This article reviews the mechanisms underlying growth disorders in children with CKD, the therapeutic effects, safety, and precautions of rhGH, and long-term management of diagnosis and treatment of this disorder.
    • GUIDELINE INTERPRETATION
  • ● GUIDELINE INTERPRETATION
    Explanation and interpretation of the compilation of blood transfusion provisions for children undergoing hematopoietic stem cell transplantation in the national health standard "Guideline for pediatric transfusion"
    HUANG Rong, HE Qing-Nan, HEI Ming-Yan, ZHU Xiao-Fan, LU Jun, XU Xiao-Jun, YUAN Tian-Ming, ZHANG Rong, WANG Xu, LIU Jin-Ping, WANG Jing, SHAO Zhi-Li, ZHAO Ming-Yi, GUO Yong-Jian, WU Xin-Yin, CHEN Jia-Rui, CHEN Qi-Rong, GUO Jia, GUI Rong, YANG Ming-Hua
    2025, 27(2): 139-143. https://doi.org/10.7499/j.issn.1008-8830.2410094
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    To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion for children undergoing hematopoietic stem cell transplantation is highly complex and challenging. This guideline provides recommendations on transfusion thresholds and the selection of blood components for these children. This article presents the evidence and interpretation of the transfusion provisions for children undergoing hematopoietic stem cell transplantation, with the aim of enhancing the understanding and implementation of the "Guideline for pediatric transfusion".
  • ● GUIDELINE INTERPRETATION
    Interpretation of similarities and differences in Kawasaki disease guidelines at home and abroad
    PAN Yan, XIE Li-Jian, JIAO Fu-Yong
    2025, 27(2): 144-147. https://doi.org/10.7499/j.issn.1008-8830.2406041
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    This paper comprehensively compares the Kawasaki disease (KD) guidelines from seven countries/regions, including China, Argentina, Europe, Italy, Japan, Spain, and the United States, as retrieved from the PubMed database. It analyzes the similarities and differences in KD diagnosis and treatment among these guidelines. The results show that all guidelines consistently recommend a single infusion of immunoglobulin at a dosage of 2 g/kg as the first-line treatment for KD, and none advocate for the routine use of methylprednisolone or prednisone as standalone first-line treatment options for KD. However, there are some differences among the guidelines regarding classification, diagnostic criteria, and specific treatment methods for KD. Therefore, it is essential to further strengthen international collaboration in guideline development and conduct multicenter clinical research in the future, aiming to achieve a higher level of expert consensus, thereby promoting the enhancement of KD diagnosis and treatment.
    • CLINICAL RESEARCH
  • ● CLINICAL RESEARCH
    A quality improvement study on improving the follow-up rate of preterm infants after discharge
    CHANG He-Sheng, YANG Xue, JU Jun, XU Wen-Ya, WU Di, WAN Xiao-Man, LI Zheng-Hong
    2025, 27(2): 148-154. https://doi.org/10.7499/j.issn.1008-8830.2410046
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    Objective To explore the measures to improve the follow-up rate of preterm infants after discharge, and to evaluate the effectiveness of these measures using quality improvement methodology. Methods The follow-up status of preterm infants discharged from March to May 2017 was used as the baseline before quality improvement, and a specific quality improvement goal for the follow-up rate was proposed. The Pareto chart was used to analyze the causes of follow-up failure, and a key driver diagram was constructed based on the links involved in improving follow-up rate. The causes of failure were analyzed to determine the key links and intervention measures for quality improvement, and the follow-up rate was monitored weekly using a control chart until the quality improvement goal was achieved. Results The follow-up rate of preterm infants after discharge was 57.92% (117/202) at baseline before quality improvement, and the quality improvement goal was set to increase the follow-up rate of preterm infants from baseline to more than 80% within 12 months. The Pareto chart analysis showed that the main causes of follow-up failure were deficiencies in follow-up file management and irregular follow-up times (33.70%, 31/92), insufficient follow-up education and poor communication (25.00%, 23/92), and the inability to meet the diverse needs of parents (18.48%, 17/92). Based on the key links for quality improvement and the main causes of follow-up failure, the following intervention measures were adopted: (1) strengthen follow-up publicity and education; (2) build a follow-up team; and (3) establish a follow-up platform and system. The control chart indicated that with the implementation of the above intervention measures, the weekly follow-up rate increased to 74.09% (306/413) in July 2017 and 83.09% (511/615) in December 2017, finally achieving the quality improvement goal. During the COVID-19 pandemic, the follow-up rate of preterm infants fluctuated between 23.54% (460/1 954) and 70.97% (1 931/2 721), and subsequently, it returned to pre-pandemic levels starting in February 2023. Conclusions The application of quality improvement methodology can help to formulate intervention measures based on the main causes of follow-up failure, thereby improving the follow-up rate of preterm infants after discharge. This quality improvement method is feasible and practical and thus holds promise for clinical application.
  • ● CLINICAL RESEARCH
    Effect of colostrum oral immune therapy on the the clinical outcomes in very low birth weight infants: a Meta analysis
    LU Yan, WANG Li-Li, WANG Li, ZHU Ke-Ran
    2025, 27(2): 155-164. https://doi.org/10.7499/j.issn.1008-8830.2406104
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    Objective To evaluate the effect of colostrum oral immune therapy (COIT) on clinical outcomes in very low birth weight (VLBW) infants. Methods A computer-based search was conducted in databases including China National Knowledge Infrastructure, Wanfang Data, Weipu Database, Chinese Biomedical Literature Service System, PubMed, Embase, Web of Science, the Cochrane Library, and CINAHL for randomized controlled trials regarding the application of COIT in VLBW infants published from the establishment of the database to February 2024. Meta analysis was performed using RevMan 5.3 software. Results A total of 14 randomized controlled trials were included, involving 1 386 VLBW infants, with 690 in the COIT group and 696 in the control group. The results showed that COIT significantly reduced the incidence of clinical late-onset sepsis (LOS) (RR=0.75, 95%CI: 0.64-0.88, P<0.001), the incidence of blood culture-proven LOS (RR=0.72, 95%CI: 0.57-0.92, P=0.008), mortality rate (RR=0.70, 95%CI: 0.52-0.95, P=0.020), the incidence of necrotizing enterocolitis (RR=0.65, 95%CI: 0.46-0.92, P=0.020), and the incidence of feeding intolerance (RR=0.49, 95%CI: 0.29-0.80, P=0.004). It also shortened the time to achieve full enteral nutrition (MD=-2.13, 95%CI: -4.03 to -0.23, P=0.030). Conclusions COIT can reduce the incidence rates of LOS, necrotizing enterocolitis, and feeding intolerance, as well as the mortality rate, while also shortening the time to achieve full enteral nutrition in VLBW infants.
  • ● CLINICAL RESEARCH
    Value of different calculation methods for weight growth velocity in predicting long-term neurological and physical development outcomes in preterm infants
    JI Pei-Hong, SUN Xuan, GAO Jin-Zhi, CHEN Ling
    2025, 27(2): 165-170. https://doi.org/10.7499/j.issn.1008-8830.2409129
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    Objective To investigate the value of weight growth velocity, calculated using the Patel exponential model and the Z-score change method, in predicting the neurological and physical development outcomes of preterm infants with a gestational age of <30 weeks in the long term. Methods A retrospective study was conducted involving preterm infants with a gestational age of <30 weeks who were hospitalized and treated in the Department of Neonatology at Tongji Hospital, Huazhong University of Science and Technology, from January 2017 to June 2022, and were followed up at the outpatient service more than 18 months of age. The preterm infants were divided into high and low rate groups based on the two calculation methods, and the two methods were compared regarding their predictive value for neurological and physical development outcomes in the long term. Results The average age of the last follow-up was (23.0±3.6) months. For neurological development, according to the Patel exponential model, the low rate group exhibited a significantly higher abnormal rate in the fine motor domain compared to the high rate group (P<0.05). Using the Z-score change method, the low rate group had significantly higher abnormal rates in both gross motor and fine motor domains, and significantly lower developmental quotients for gross motor, fine motor, and adaptive behavior domains compared to the high rate group (P<0.05). For physical development, there were no significant differences in body length, body weight, head circumference, or the incidence rate of growth restriction between the low rate and high rate groups identified by either method (P>0.05). Conclusions Weight growth velocity calculated using the Z-score change method is more effective in predicting long-term neurological outcomes in preterm infants, while weight growth velocity derived from both methods shows no significant association with long-term physical development outcomes.
  • ● CLINICAL RESEARCH
    Efficacy and safety of perampanel add-on therapy in children with epilepsy of genetic etiology
    YI Jia-Qin, SUN Dan
    2025, 27(2): 171-175. https://doi.org/10.7499/j.issn.1008-8830.2409069
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    Objective To investigate the efficacy and safety of perampanel (PER) add-on therapy in children with epilepsy of genetic etiology. Methods A retrospective analysis was conducted on the clinical data of 53 children who attended the Department of Neurology, Wuhan Children's Hospital, from November 2020 to April 2023. All children received PER add-on therapy and were diagnosed with epilepsy of genetic etiology based on whole-exome sequencing. The primary outcome measure was the proportion of children with a reduction in seizure frequency of ≥50% at month 12 of PER treatment (i.e., response rate), and the secondary outcome measures were response rates at months 3 and 6 of treatment. The influencing factors for the efficacy of PER add-on therapy in the treatment of epilepsy of genetic etiology were analyzed, and adverse events were recorded. Results The median follow-up duration was 13.10 months. After 12 months of follow-up, 42 children were included in the analysis, comprising 25 boys (60%) and 17 girls (40%). The median initial dose of PER was 1.5 (1.0, 2.0) mg/d, and the median maintenance dose was 4.0 (3.0, 8.0) mg/d. The response rates to PER at months 3, 6, and 12 of treatment were 61% (30/49), 54% (25/46), and 48% (20/42), respectively. No significant difference in the efficacy of PER was observed between children with mutations in genes encoding different protein functions (P>0.05). The most common adverse event reported was fatigue, observed in 3 children (6%). Conclusions PER add-on therapy demonstrates good efficacy and safety in children with epilepsy of genetic etiology. No influencing factors for the efficacy of PER have been identified to date.
  • ● CLINICAL RESEARCH
    Diagnosis of coronary artery lesions in children based on Z-score regression model
    WANG Yong, JIANG Jia-Ying, DENG Yan, LI Bo, SHUAI Ping, HU Xiao-Ping, ZHANG Yin-Yan, WU Han, YE Lu-Wei, PENG Qian
    2025, 27(2): 176-183. https://doi.org/10.7499/j.issn.1008-8830.2405030
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    Objective To construct a Z-score regression model for coronary artery diameter based on echocardiographic data from children in Sichuan Province and to establish a Z-score calculation formula. Methods A total of 744 healthy children who underwent physical examinations at Sichuan Provincial People's Hospital from January 2020 to December 2022 were selected as the modeling group, while 251 children diagnosed with Kawasaki disease at the same hospital from January 2018 to December 2022 were selected as the validation group. Pearson correlation analysis was conducted to analyze the relationships between coronary artery diameter values and age, height, weight, and body surface area. A regression model was constructed using function transformation to identify the optimal regression model and establish the Z-score calculation formula, which was then validated. Results The Pearson correlation analysis showed that the correlation coefficients for the diameters of the left main coronary artery, left anterior descending artery, left circumflex artery, and right coronary artery with body surface area were 0.815, 0.793, 0.704, and 0.802, respectively (P<0.05). Among the constructed regression models, the power function regression model demonstrated the best performance and was therefore chosen as the optimal model for establishing the Z-score calculation formula. Based on this Z-score calculation formula, the detection rate of coronary artery lesions was found to be 21.5% (54/251), which was higher than the detection rate based on absolute values of coronary artery diameter. Notably, in the left anterior descending and left circumflex arteries, the detection rate of coronary artery lesions using this Z-score calculation formula was higher than that of previous classic Z-score calculation formulas. Conclusions The Z-score calculation formula established based on the power function regression model has a higher detection rate for coronary artery lesions, providing a strong reference for clinicians, particularly in assessing coronary artery lesions in children with Kawasaki disease.
  • ● CLINICAL RESEARCH
    A systematic review of childhood cancer-related fatigue assessment tools based on the COSMIN guidelines
    ZHAO Qian, WANG Yu, BIAN Lan-Zheng
    2025, 27(2): 184-191. https://doi.org/10.7499/j.issn.1008-8830.2408132
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    Objective To systematically review the methodological quality and measurement properties of childhood cancer-related fatigue assessment tools based on the consensus-based standards for the selection of health measurement instruments (COSMIN) guidelines, providing a basis for clinical practitioners to select appropriate assessment tools. Methods The databases searched included China National Knowledge Infrastructure, Wanfang Data, China Biomedical Literature, Weipu, PubMed, CINAHL, Embase, and Web of Science for studies published up to January 2024. Children under 12 years old and their primary caregivers were enrolled as subjects. Articles were screened based on inclusion criteria, and the key information regarding the assessment tools was extracted. The risk of bias checklist from the COSMIN guidelines and the quality standard rating scale were employed to evaluate measurement properties and formulate final recommendations. Results A total of 18 articles were included, covering 7 fatigue measurement tools, consisting of 4 specific tools and 3 generic tools tools. Methodological differences were observed in measurement properties across these scales. The Chinese Version of the Pediatric Patient-Reported Outcomes Measurement Information System (C-Ped-PROMIS) was rated as grade A recommendation due to its adequate content validity and internal consistency, while the remaining six scales were rated as grade B recommendation since their content validity was assessed as "insufficient" based on moderate-level evidence or higher. Conclusions The C-Ped-PROMIS scale demonstrates good reliability, validity, and cross-cultural validity as the preferred tool for measuring childhood cancer-related fatigue. The scale can serve as an auxiliary tool, and future research should focus on the applicability of various tools to enhance the effectiveness of interventions for assessing childhood cancer-related fatigue.
  • ● CLINICAL RESEARCH
    Risk factors for hypoxemia in children with severe Mycoplasma pneumoniae pneumonia
    QIN Yu-Jie, YANG Yu-Xia, LI Jun-Xiang, GUAN Jun
    2025, 27(2): 192-198. https://doi.org/10.7499/j.issn.1008-8830.2408094
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    Objective To study the risk factors for hypoxemia in children with severe Mycoplasma pneumoniae pneumonia (SMPP). Methods A retrospective collection of clinical data from children diagnosed with SMPP at the Third Affiliated Hospital of Zhengzhou University from June to December 2023 was conducted. The patients were categorized into hypoxemia and non-hypoxemia groups. Logistic regression analysis was used to assess the risk factors for hypoxemia, and receiver operating characteristic (ROC) curve analysis was employed to analyze the diagnostic performance of various indicators. Results A total of 113 children with SMPP were included. Univariate logistic regression analysis showed that ferritin, aspartate aminotransferase, creatinine, creatine kinase isoenzyme, lactate dehydrogenase, alpha-hydroxybutyrate dehydrogenase, immunoglobulin G, complement C3, complement C4, age, extrapulmonary complications, and a chest computed tomography (CT) scan showing a bronchiolitis pattern were significant factors for hypoxemia in children with SMPP (P<0.05). Multivariate logistic regression analysis revealed that elevated ferritin levels, presence of extrapulmonary complications, and a bronchiolitis pattern on lung CT were independent risk factors for hypoxemia in these patients (P<0.05). The ROC curve analysis indicated that the combination of these three indicators for predicting hypoxemia had a sensitivity of 71.9%, a specificity of 95.1%, and an area under the curve of 0.888 (95%CI: 0.809-0.968). Conclusions In children with SMPP, when there are elevated ferritin levels, a bronchiolitis pattern on chest CT, and the presence of extrapulmonary complications, there should be a high level of vigilance for the potential development of hypoxemia.
  • ● CLINICAL RESEARCH
    Application of colloidal gold method and chemiluminescence method for detecting gonadotropins in morning urine to assess pubertal development status in children
    ZHAO Xue-Qi, LU Wen-Li, LI Wen-Ying, WANG Jun-Qi, DONG Zhi-Ya, XIAO Yuan, ZHANG Xiao-Fei, JIANG Li, MA Xiao-Yu
    2025, 27(2): 199-204. https://doi.org/10.7499/j.issn.1008-8830.2409066
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    Objective To explore the application of the colloidal gold method and chemiluminescence method in detecting gonadotropin (Gn) in morning urine for assessing pubertal development status in children. Methods A total of 132 children diagnosed with central precocious puberty (CPP), early and fast puberty (EFP), and premature thelarche (PT) at Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from November 2021 to December 2022 were included, along with 685 healthy children who underwent routine health examinations at the hospital's pediatric health care department during the same period. All 132 patients underwent a gonadotropin-releasing hormone (GnRH) stimulation test. Both patients and healthy children had their urinary Gn levels measured using the colloidal gold method and chemiluminescence method, including levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). The correlation between serum Gn and urinary Gn detected by the two methods, as well as the correlation between Tanner stages of healthy children and urinary Gn, was analyzed. Results Urine Gn levels detected by both the colloidal gold method and chemiluminescence method showed a positive correlation with serum LH baseline values, LH peak values, baseline LH/FSH ratios, and peak LH/FSH ratios (P<0.05). In healthy children, urinary LH levels detected by the chemiluminescence method gradually increased from Tanner stage Ⅰ to Ⅳ (P<0.05), while urinary FSH levels were lower in Tanner stage I than in stages Ⅱ, Ⅲ, and IV (P<0.05). Urinary LH levels detected by the colloidal gold method were lower in Tanner stage I compared to stages Ⅱ, Ⅲ, and IV, with the highest levels observed in Tanner stage Ⅳ (P<0.05). Additionally, urinary FSH levels in Tanner stage Ⅲ were higher than in stages Ⅰ and Ⅱ (P<0.05). The area under the receiver operating characteristic curve for evaluating Tanner stages I and II in healthy children using urinary LH and FSH levels by the chemiluminescence method and urinary LH levels by the colloidal gold method were 0.730, 0.699, and 0.783, respectively. Conclusions The colloidal gold method and chemiluminescence method for detecting Gn in morning urine show good correlation with serum Gn levels. As a non-invasive and convenient detection method, the colloidal gold method can serve as a useful tool for screening the onset of pubertal development in children.
    • RARE DISEASE RESEARCH
  • ● RARE DISEASE RESEARCH
    Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review
    CHEN Xiao-Yi, ZHU Yong-Jie, DENG Jie, MA Yan-Li, SUO Jun-Fang, WANG Yuan, MA Yuan-Ning
    2025, 27(2): 205-211. https://doi.org/10.7499/j.issn.1008-8830.2409063
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    Objective To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the C12orf65 gene, and to enhance the awareness of this disease. Methods A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes. Results A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the C12orf65 gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients. Conclusions COXPD7 associated with the C12orf65 gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.
    • EXPERIMENTAL RESEARCH
  • ● EXPERIMENTAL RESEARCH
    Expression of GATA1 in bronchial asthma and its effect on the transcription regulation of the ORMDL3 gene
    CHEN Hu, LI Jiao-Jiao, YUAN Yue, JIN Rui
    2025, 27(2): 212-218. https://doi.org/10.7499/j.issn.1008-8830.2408143
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    Objective To study the expression of the transcription factor GATA1 in bronchial asthma (referred to as asthma) and its effect on the expression level of the asthma susceptibility gene orosomucoid 1-like protein 3 (ORMDL3), along with the underlying molecular mechanisms. Methods The study included 28 cases of moderate asthma, 46 cases of severe asthma, and 12 normal controls from the Gene Expression Omnibus (GEO) database. The mRNA expression levels of GATA1 and ORMDL3 were analyzed among the asthma patients and the normal controls, including their correlation. The pGL-185/58 plasmid was co-transfected with GATA1 gene siRNA (si-GATA1 group) and siRNA negative control (si-control group) into BEAS-2B cells. Bioinformatics methods were used to predict GATA1 binding sites in the promoter region of the ORMDL3 gene. The dual-luciferase reporter gene system was employed to assess the promoter activity of ORMDL3, while real-time quantitative PCR and Western blotting were used to measure the mRNA and protein expression levels of GATA1 and ORMDL3. Chromatin immunoprecipitation (ChIP) assays were conducted to determine whether GATA1 binds to the promoter region of ORMDL3. Results The expression levels of GATA1 and ORMDL3 mRNA were significantly higher in the severe asthma group compared to the normal control group (P<0.001). Positive correlations were observed between GATA1 mRNA and ORMDL3 mRNA expression levels in both the moderate and severe asthma groups (r=0.636 and 0.341, respectively; P<0.05). In BEAS-2B cells, the dual-luciferase reporter assay revealed that ORMDL3 promoter luciferase activity, as well as ORMDL3 mRNA and protein expression levels, were lower in the si-GATA1 group compared to the si-control group (P<0.05). ChIP assay results demonstrated that GATA1 could bind to the promoter region of ORMDL3. Conclusions The expression of GATA1 is increased in asthma patients, which may regulate the promoter activity and expression of the asthma susceptibility gene ORMDL3.
    • CLINICAL EXPERIENCE
  • ● CLINICAL EXPERIENCE
    Diagnosis of mucormycosis in three children following hematopoietic stem cell transplantation using metagenomic next-generation sequencing
    LI Yue, ZHOU Xiao-Hui, WANG Xiao-Dong, WANG Chun-Jing, CAO Ke, LIU Si-Xi
    2025, 27(2): 219-224. https://doi.org/10.7499/j.issn.1008-8830.2408034
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    This article reports the clinical characteristics and treatment processes of three cases of mucormycosis occurring after hematopoietic stem cell transplantation in children, along with a review of relevant literature. All three patients presented with chest pain as the initial symptom, and metagenomic next-generation sequencing (mNGS) confirmed the mucycete infection early in all cases. Two patients recovered after treatment, while one succumbed to disseminated infection. mNGS has facilitated early diagnosis and treatment, reducing mortality rates. Additionally, surgical intervention is an important strategy for improving the prognosis of this condition.
    • CASE REPORT
  • ● CASE REPORT
    Type II Leydig cell hypoplasia caused by LHCGR gene mutation: a case report
    JIN Ke-Xin, SU Zhe, JIAO Yan-Hua, PAN Li-Li, JIANG Xian-Ping, YIN Jian-Chun, LI Jia-Qiang
    2025, 27(2): 225-228. https://doi.org/10.7499/j.issn.1008-8830.2410074
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    The patient, assigned female at birth and aged 1 year and 7 months, presented with clinical manifestations of 46,XY disorders of sex development. The external genitalia exhibited a severely undermasculinized phenotype. Laboratory tests and gonadal biopsy indicated poor Leydig cell function and good Sertoli cell function. Genetic testing revealed compound heterozygous mutations of c.867-2A>C and c.547G>A (p.G183R) in the LHCGR gene. The patient was ultimately diagnosed with type II Leydig cell hypoplasia. Type II Leydig cell hypoplasia presents a broad spectrum of clinical phenotypes, characterized by a lack of parallel function between Leydig cells and Sertoli cells, and significant individual variability in spermatogenesis and gender assignment. This condition should be considered when there is poor Leydig cell function but good development of Wolffian duct derivatives.
    • REVIEW
  • ● REVIEW
    Research progress on phenotypic modifier genes in spinal muscular atrophy
    PAN Wei, CAO Yan-Yan
    2025, 27(2): 229-235. https://doi.org/10.7499/j.issn.1008-8830.2410064
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    Spinal muscular atrophy (SMA) is a common fatal autosomal recessive genetic disorder in childhood, primarily caused by homozygous deletion of the SMN1 gene. Its main characteristics include the degenerative changes in the anterior horn motor neurons of the spinal cord, leading to symmetrical progressive muscle weakness and atrophy of the proximal limbs. However, SMA patients with the same genetic background often exhibit different degrees of disease severity. In addition to the well-established modifier gene SMN2, the effect of other modifier genes on clinical phenotypes should not be overlooked. This paper reviews the latest advancements in the pathogenic and modifier genes of SMA, aiming to provide a deeper understanding of the pathogenic mechanisms and phenotypic differences in SMA, as well as to offer new strategies and targets for treating this condition.
  • ● REVIEW
    Advances in the diagnosis and treatment of thrombocytosis in children
    XU Yu-Ting, HU Qun
    2025, 27(2): 236-241. https://doi.org/10.7499/j.issn.1008-8830.2408066
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    Thrombocytosis is a common condition in children, classified into primary and secondary types. Secondary thrombocytosis is mainly caused by factors such as infection, anemia, iron deficiency, trauma, or surgical intervention, and it typically occurs without severe thrombosis or bleeding events. Platelet counts can return to normal after control of the primary factors, with favorable clinical outcomes. Primary thrombocytosis is mainly caused by myeloproliferative neoplasms such as polycythemia vera, essential thrombocythemia, and myelofibrosis, often accompanied by gene mutations in hematopoietic cells. In children, clinical manifestations are atypical compared to adults, with few thromboembolic or bleeding events. No special treatment is required for patients who are asymptomatic or have mild symptoms, and it is recommended to regularly monitor platelet counts. Antiplatelet therapy with aspirin can be considered for patients at risk of thrombosis or those with extreme thrombocytosis, and cytoreductive therapy can be performed when necessary, but the toxicities and side effects of drugs should be closely monitored. At present, hydroxyurea, interferon-alpha, and anagrelide are commonly used for cytoreductive therapy. This article provides an overview of the etiology, classification, clinical manifestations, diagnosis, and treatment of childhood thrombocytosis to guide healthcare professionals in treatment decisions.
  • ● REVIEW
    Research progress on N6-methyladenosine and ferroptosis in childhood combined allergic rhinitis and asthma syndrome
    LI Jing-Yi, LI Yu-Jian, LAI Sheng-Lin, KAN Xuan
    2025, 27(2): 242-247. https://doi.org/10.7499/j.issn.1008-8830.2407062
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    Combined allergic rhinitis and asthma syndrome (CARAS) is one of the common chronic airway inflammatory diseases in children. With the development of epigenetics, research on CARAS has gradually extended from protein levels to molecular levels, such as transcription and post-transcriptional regulation. N6-methyladenosine (m6A) methylation and ferroptosis have emerged as promising research hotspots in recent years, playing crucial roles in tumors, growth and development, and allergic diseases. This paper aims to summarize the characteristics of m6A and ferroptosis, along with their roles in the onset and progression of CARAS in children, thereby providing new insights and strategies for the diagnosis and treatment of childhood CARAS.